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dbVar

Database of genomic structural variation

nsv6314236

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;XX;t(10;14)(p13;q21)dn 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: 64 SVs from 21 studies. See in: genome view

Remapped(Score: Perfect):11,369,949-11,369,949

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314236	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	11,369,949	11,369,949	-
nsv6314236	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	11,369,949	11,369,949	+
nsv6314236	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	14,708,352	14,708,352	+
nsv6314236	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	14,708,352	14,708,352	+
nsv6314236	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	43,462,272	43,462,272	+
nsv6314236	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	43,462,272	43,462,272	-
nsv6314236	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	11,411,948	11,411,948	-
nsv6314236	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	11,411,948	11,411,948	+
nsv6314236	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	14,750,351	14,750,351	+
nsv6314236	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	14,750,351	14,750,351	+
nsv6314236	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	43,931,475	43,931,475	+
nsv6314236	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	43,931,475	43,931,475	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975749	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Global developmental delay; Global developmental delay; Somatic sensory dysfunction; Somatic sensory dysfunction; Specific learning disability; Specific learning disability	Likely pathogenic	ClinVar	RCV000258684.1, VCV000267875.1
nssv17975750	copy number loss	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Global developmental delay; Global developmental delay; Somatic sensory dysfunction; Somatic sensory dysfunction; Specific learning disability; Specific learning disability	Likely pathogenic	ClinVar	RCV000258684.1, VCV000267875.1
nssv17975748	interchromosomal translocation	Multiple	Multiple	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Global developmental delay; Global developmental delay; Somatic sensory dysfunction; Somatic sensory dysfunction; Specific learning disability; Specific learning disability	Likely pathogenic	ClinVar	RCV000258684.1, VCV000267875.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975749	Remapped	Perfect		GRCh38.p12	First Pass	NC_000010.11	Chr10	11,369,949	11,369,949	-
nssv17975750	Remapped	Perfect	NC_000010.11:g.113 69949delNC_000010. 11:g.14708352del	GRCh38.p12	First Pass	NC_000010.11	Chr10	11,369,949	11,369,949
nssv17975748	Remapped	Perfect		GRCh38.p12	First Pass	NC_000010.11	Chr10	14,708,352	14,708,352	+
nssv17975750	Remapped	Perfect	NC_000010.11:g.113 69949delNC_000010. 11:g.14708352del	GRCh38.p12	First Pass	NC_000010.11	Chr10	14,708,352	14,708,352
nssv17975748	Remapped	Perfect		GRCh38.p12	First Pass	NC_000014.9	Chr14	43,462,272	43,462,272	-
nssv17975749	Remapped	Perfect		GRCh38.p12	First Pass	NC_000014.9	Chr14	43,462,272	43,462,272	+
nssv17975749	Submitted genomic			GRCh37 (hg19)		NC_000010.10	Chr10	11,411,948	11,411,948	-
nssv17975750	Submitted genomic		NC_000010.10:g.114 11948delNC_000010. 10:g.14750351del	GRCh37 (hg19)		NC_000010.10	Chr10	11,411,948	11,411,948
nssv17975748	Submitted genomic			GRCh37 (hg19)		NC_000010.10	Chr10	14,750,351	14,750,351	+
nssv17975750	Submitted genomic		NC_000010.10:g.114 11948delNC_000010. 10:g.14750351del	GRCh37 (hg19)		NC_000010.10	Chr10	14,750,351	14,750,351
nssv17975748	Submitted genomic			GRCh37 (hg19)		NC_000014.8	Chr14	43,931,475	43,931,475	-
nssv17975749	Submitted genomic			GRCh37 (hg19)		NC_000014.8	Chr14	43,931,475	43,931,475	+

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975749		interchromosomal translocation	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Global developmental delay; Global developmental delay; Somatic sensory dysfunction; Somatic sensory dysfunction; Specific learning disability; Specific learning disability	Likely pathogenic	ClinVar	RCV000258684.1, VCV000267875.1
nssv17975750	GRCh37: NC_000010.10:g.11411948delNC_000010.10:g.14750351del	copy number loss	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Global developmental delay; Global developmental delay; Somatic sensory dysfunction; Somatic sensory dysfunction; Specific learning disability; Specific learning disability	Likely pathogenic	ClinVar	RCV000258684.1, VCV000267875.1
nssv17975748		interchromosomal translocation	de novo	ATTENTION DEFICIT-HYPERACTIVITY DISORDER; ADHD; Attention deficit hyperactivity disorder; Attention deficit hyperactivity disorder; Global developmental delay; Global developmental delay; Somatic sensory dysfunction; Somatic sensory dysfunction; Specific learning disability; Specific learning disability	Likely pathogenic	ClinVar	RCV000258684.1, VCV000267875.1

No genotype data were submitted for this variant

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