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dbVar

Database of genomic structural variation

nsv7093405

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:605,036

Description:GRCh37/hg19 16p12.2(chr16:21780595-22385630)x1 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: 1656 SVs from 97 studies. See in: genome view

Remapped(Score: Perfect):21,769,274-22,374,309

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093405	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	21,769,274	22,374,309
nsv7093405	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_017852933.1	Chr16\|NW_0 17852933.1	730,730	1,335,506
nsv7093405	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	21,780,595	22,385,630

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18786368	copy number loss	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV002511851.3, VCV001879352.4	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786368	Remapped	Good	NW_017852933.1:g.( ?_730730)_(1335506 _?)del	GRCh38.p12	Second Pass	NW_017852933.1	Chr16\|NW_0 17852933.1	730,730	1,335,506
nssv18786368	Remapped	Perfect	NC_000016.10:g.(?_ 21769274)_(2237430 9_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	21,769,274	22,374,309
nssv18786368	Submitted genomic		NC_000016.9:g.(?_2 1780595)_(22385630 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	21,780,595	22,385,630

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
nssv18786368	GRCh37: NC_000016.9:g.(?_21780595)_(22385630_?)del	copy number loss	germline	not provided	Likely pathogenic	ClinVar	RCV002511851.3, VCV001879352.4	1

No genotype data were submitted for this variant

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