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dbVar

Database of genomic structural variation

nsv6309859

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:49,967

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: 588 SVs from 83 studies. See in: genome view

Remapped(Score: Perfect):21,678,515-21,728,451

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309859	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	21,678,515	21,728,451
nsv6309859	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_017852933.1	Chr16\|NW_0 17852933.1	1,376,356	1,426,322
nsv6309859	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	21,689,836	21,739,772

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17972458	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001975243.3, VCV001459527.3
nssv17973035	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001997153.3, VCV001448527.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17972458	Remapped	Good	NW_017852933.1:g.( ?_1376356)_(142632 2_?)del	GRCh38.p12	Second Pass	NW_017852933.1	Chr16\|NW_0 17852933.1	1,376,356	1,426,322
nssv17973035	Remapped	Good	NW_017852933.1:g.( ?_1376356)_(142632 2_?)dup	GRCh38.p12	Second Pass	NW_017852933.1	Chr16\|NW_0 17852933.1	1,376,356	1,426,322
nssv17972458	Remapped	Perfect	NC_000016.10:g.(?_ 21678515)_(2172845 1_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	21,678,515	21,728,451
nssv17973035	Remapped	Perfect	NC_000016.10:g.(?_ 21678515)_(2172845 1_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	21,678,515	21,728,451
nssv17972458	Submitted genomic		NC_000016.9:g.(?_2 1689836)_(21739772 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	21,689,836	21,739,772
nssv17973035	Submitted genomic		NC_000016.9:g.(?_2 1689836)_(21739772 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	21,689,836	21,739,772

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
nssv17972458	GRCh37: NC_000016.9:g.(?_21689836)_(21739772_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001975243.3, VCV001459527.3
nssv17973035	GRCh37: NC_000016.9:g.(?_21689836)_(21739772_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001997153.3, VCV001448527.3

No genotype data were submitted for this variant

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