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

dbVar

Database of genomic structural variation

nsv6313698

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:4,811,879

Description:GRCh37/hg19 5q22.1-23.1(chr5:111443783-116255660) AND not specified

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: 12757 SVs from 123 studies. See in: genome view

Remapped(Score: Perfect):112,108,086-116,919,964

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6313698	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	112,108,086	116,919,964
nsv6313698	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	111,443,783	116,255,660

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17970046	copy number loss	Multiple	Multiple	not specified	Pathogenic	ClinVar	RCV002053518.3, VCV001527186.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17970046	Remapped	Perfect	NC_000005.10:g.(?_ 112108086)_(116919 964_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	112,108,086	116,919,964
nssv17970046	Submitted genomic		NC_000005.9:g.(?_1 11443783)_(1162556 60_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	111,443,783	116,255,660

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
nssv17970046	GRCh37: NC_000005.9:g.(?_111443783)_(116255660_?)del	copy number loss	germline	not specified	Pathogenic	ClinVar	RCV002053518.3, VCV001527186.3

No genotype data were submitted for this variant

You are here: NCBI