Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv6314523

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;XYt(2;5)(q22;q22)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: 145 SVs from 27 studies. See in: genome view

Remapped(Score: Perfect):148,258,393-148,258,393

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv6314523	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	148,258,393	148,258,393	+
nsv6314523	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	148,259,189	148,259,189	+
nsv6314523	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	120,150,269	120,150,269	+
nsv6314523	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	120,150,308	120,150,308	-
nsv6314523	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	120,150,477	120,150,477	-
nsv6314523	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	120,150,481	120,150,481	+
nsv6314523	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	149,015,962	149,015,962	+
nsv6314523	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	149,016,758	149,016,758	+
nsv6314523	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	119,485,964	119,485,964	+
nsv6314523	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	119,486,003	119,486,003	-
nsv6314523	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	119,486,172	119,486,172	-
nsv6314523	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	119,486,176	119,486,176	+

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17975787	interchromosomal translocation	Multiple	Multiple	Focal seizures; Focal-onset seizure; Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258700.1, VCV000267895.1
nssv17975789	interchromosomal translocation	Multiple	Multiple	Focal seizures; Focal-onset seizure; Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258700.1, VCV000267895.1
nssv17975788	intrachromosomal translocation	Multiple	Multiple	Focal seizures; Focal-onset seizure; Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258700.1, VCV000267895.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nssv17975787	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	148,258,393	148,258,393	+
nssv17975789	Remapped	Perfect	GRCh38.p12	First Pass	NC_000002.12	Chr2	148,259,189	148,259,189	+
nssv17975789	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	120,150,269	120,150,269	+
nssv17975788	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	120,150,308	120,150,308	-
nssv17975787	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	120,150,477	120,150,477	-
nssv17975788	Remapped	Perfect	GRCh38.p12	First Pass	NC_000005.10	Chr5	120,150,481	120,150,481	+
nssv17975787	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	149,015,962	149,015,962	+
nssv17975789	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	149,016,758	149,016,758	+
nssv17975789	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	119,485,964	119,485,964	+
nssv17975788	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	119,486,003	119,486,003	-
nssv17975787	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	119,486,172	119,486,172	-
nssv17975788	Submitted genomic		GRCh37 (hg19)		NC_000005.9	Chr5	119,486,176	119,486,176	+

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
nssv17975787	interchromosomal translocation	de novo	Focal seizures; Focal-onset seizure; Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258700.1, VCV000267895.1
nssv17975789	interchromosomal translocation	de novo	Focal seizures; Focal-onset seizure; Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258700.1, VCV000267895.1
nssv17975788	intrachromosomal translocation	de novo	Focal seizures; Focal-onset seizure; Global developmental delay; Global developmental delay	Pathogenic	ClinVar	RCV000258700.1, VCV000267895.1

No genotype data were submitted for this variant

You are here: NCBI