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dbVar

Database of genomic structural variation

nsv4729918

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:1,690,088

Description:GRCh37/hg19 16p11.2(chr16:28488319-30178406)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: 5365 SVs from 116 studies. See in: genome view

Remapped(Score: Perfect):28,476,998-30,167,085

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4729918	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	28,476,998	30,167,085
nsv4729918	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	28,488,319	30,178,406

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16254933	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001258616.2, VCV000979440.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16254933	Remapped	Perfect	NC_000016.10:g.(?_ 28476998)_(3016708 5_?)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	28,476,998	30,167,085
nssv16254933	Submitted genomic		NC_000016.9:g.(?_2 8488319)_(30178406 _?)del	GRCh37 (hg19)		NC_000016.9	Chr16	28,488,319	30,178,406

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
nssv16254933	GRCh37: NC_000016.9:g.(?_28488319)_(30178406_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001258616.2, VCV000979440.2	1

No genotype data were submitted for this variant

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