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

dbVar

Database of genomic structural variation

nsv6137737

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:107,209

Description:Single allele AND not provided

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: 400 SVs from 42 studies. See in: genome view

Remapped(Score: Perfect):31,729,621-31,836,829

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6137737	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	31,729,621	31,836,829
nsv6137737	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	31,747,738	31,854,946

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17683529	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001663749.2, VCV001256407.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17683529	Remapped	Perfect	NC_000023.11:g.(?_ 31729621)_(3183682 9_?)del	GRCh38.p12	First Pass	NC_000023.11	ChrX	31,729,621	31,836,829
nssv17683529	Submitted genomic		NC_000023.10:g.(?_ 31747738)_(3185494 6_?)del	GRCh37 (hg19)		NC_000023.10	ChrX	31,747,738	31,854,946

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
nssv17683529	GRCh37: NC_000023.10:g.(?_31747738)_(31854946_?)del	deletion	unknown	not provided	Pathogenic	ClinVar	RCV001663749.2, VCV001256407.2

No genotype data were submitted for this variant

You are here: NCBI