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

dbVar

Database of genomic structural variation

nsv4684075

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:3,512

Description:
See descriptions for individual calls in download files

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: 90 SVs from 18 studies. See in: genome view

Remapped(Score: Perfect):18,512,225-18,515,736

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4684075	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	18,512,225	18,515,736
nsv4684075	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	18,492,869	18,496,380

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16215085	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001093455.11, VCV000872798.16	3
nssv17649983	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001531531.9, VCV001176123.10	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16215085	Remapped	Perfect	NC_000020.11:g.(?_ 18512225)_(1851573 6_?)dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	18,512,225	18,515,736
nssv17649983	Remapped	Perfect	NC_000020.11:g.(?_ 18512225)_(1851573 6_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	18,512,225	18,515,736
nssv16215085	Submitted genomic		NC_000020.10:g.(?_ 18492869)_(1849638 0_?)dup	GRCh37 (hg19)		NC_000020.10	Chr20	18,492,869	18,496,380
nssv17649983	Submitted genomic		NC_000020.10:g.(?_ 18492869)_(1849638 0_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	18,492,869	18,496,380

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	Copy number
nssv16215085	GRCh37: NC_000020.10:g.(?_18492869)_(18496380_?)dup	copy number gain	germline	not provided	Pathogenic	ClinVar	RCV001093455.11, VCV000872798.16	3
nssv17649983	GRCh37: NC_000020.10:g.(?_18492869)_(18496380_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001531531.9, VCV001176123.10	1

No genotype data were submitted for this variant

You are here: NCBI