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dbVar

Database of genomic structural variation

nsv6314260

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:complex chromosomal rearrangement
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:3
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Description:
46;XY;t(2;11)(q31;q13.5)pat AND multiple conditions
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Redin et al. 2016

Links to Other Resources

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 159 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):185,168,383-185,168,383

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314260	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	185,168,383	185,168,383	+
nsv6314260	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	185,168,415	185,168,415	+
nsv6314260	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	185,174,384	185,174,384	-
nsv6314260	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	185,174,733	185,174,733	-
nsv6314260	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	87,954,511	87,954,511	+
nsv6314260	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	87,954,557	87,954,557	+
nsv6314260	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	186,033,110	186,033,110	+
nsv6314260	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	186,033,142	186,033,142	+
nsv6314260	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	186,039,111	186,039,111	-
nsv6314260	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	186,039,460	186,039,460	-
nsv6314260	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	87,665,403	87,665,403	+
nsv6314260	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	87,665,449	87,665,449	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975413	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Arachnoid cyst; Arachnoid cyst; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Compulsive behaviors; Delayed speech and language development; Delayed speech and language development; Global developmental delay; Global developmental delay; Obsessive-compulsive behavior; Oppositional defiant disorder; Oppositional defiant disorder; Somatic sensory dysfunction; Somatic sensory dysfunction	Uncertain significance	ClinVar	RCV000258592.1, VCV000267865.1
nssv17975415	intrachromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Arachnoid cyst; Arachnoid cyst; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Compulsive behaviors; Delayed speech and language development; Delayed speech and language development; Global developmental delay; Global developmental delay; Obsessive-compulsive behavior; Oppositional defiant disorder; Oppositional defiant disorder; Somatic sensory dysfunction; Somatic sensory dysfunction	Uncertain significance	ClinVar	RCV000258592.1, VCV000267865.1
nssv17975414	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Arachnoid cyst; Arachnoid cyst; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Compulsive behaviors; Delayed speech and language development; Delayed speech and language development; Global developmental delay; Global developmental delay; Obsessive-compulsive behavior; Oppositional defiant disorder; Oppositional defiant disorder; Somatic sensory dysfunction; Somatic sensory dysfunction	Uncertain significance	ClinVar	RCV000258592.1, VCV000267865.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975413	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	185,168,383	185,168,383	+
nssv17975415	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	185,168,415	185,168,415	+
nssv17975415	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	185,174,384	185,174,384	-
nssv17975414	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	185,174,733	185,174,733	-
nssv17975413	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	87,954,511	87,954,511	+
nssv17975414	Remapped	Perfect	GRCh38.p12	First Pass	NC_000011.10	Chr11	87,954,557	87,954,557	+
nssv17975413	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	186,033,110	186,033,110	+
nssv17975415	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	186,033,142	186,033,142	+
nssv17975415	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	186,039,111	186,039,111	-
nssv17975414	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	186,039,460	186,039,460	-
nssv17975413	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	87,665,403	87,665,403	+
nssv17975414	Submitted genomic		GRCh37 (hg19)		NC_000011.9	Chr11	87,665,449	87,665,449	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975413	interchromosomal translocation	paternal	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Arachnoid cyst; Arachnoid cyst; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Compulsive behaviors; Delayed speech and language development; Delayed speech and language development; Global developmental delay; Global developmental delay; Obsessive-compulsive behavior; Oppositional defiant disorder; Oppositional defiant disorder; Somatic sensory dysfunction; Somatic sensory dysfunction	Uncertain significance	ClinVar	RCV000258592.1, VCV000267865.1
nssv17975415	intrachromosomal translocation	paternal	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Arachnoid cyst; Arachnoid cyst; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Compulsive behaviors; Delayed speech and language development; Delayed speech and language development; Global developmental delay; Global developmental delay; Obsessive-compulsive behavior; Oppositional defiant disorder; Oppositional defiant disorder; Somatic sensory dysfunction; Somatic sensory dysfunction	Uncertain significance	ClinVar	RCV000258592.1, VCV000267865.1
nssv17975414	interchromosomal translocation	paternal	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Arachnoid cyst; Arachnoid cyst; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Compulsive behaviors; Delayed speech and language development; Delayed speech and language development; Global developmental delay; Global developmental delay; Obsessive-compulsive behavior; Oppositional defiant disorder; Oppositional defiant disorder; Somatic sensory dysfunction; Somatic sensory dysfunction	Uncertain significance	ClinVar	RCV000258592.1, VCV000267865.1

No genotype data were submitted for this variant

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