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dbVar

Database of genomic structural variation

nsv6315469

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:5,852,499

Description:GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1 AND See cases

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: 17240 SVs from 123 studies. See in: genome view

Remapped(Score: Perfect):68,937,164-74,789,662

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6315469	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	68,937,164	74,789,662
nsv6315469	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	68,971,067	74,823,560

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17977117	copy number loss	Multiple	Multiple	See cases	Pathogenic	ClinVar	RCV002285074.1, VCV001706519.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv17977117	Remapped	Perfect	NC_000016.10:g.(68 937164_?)_(?_74789 662)del	GRCh38.p12	First Pass	NC_000016.10	Chr16	68,937,164	74,789,662
nssv17977117	Submitted genomic		NC_000016.9:g.(689 71067_?)_(?_748235 60)del	GRCh37 (hg19)		NC_000016.9	Chr16	68,971,067	74,823,560

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
nssv17977117	GRCh37: NC_000016.9:g.(68971067_?)_(?_74823560)del	copy number loss	unknown	See cases	Pathogenic	ClinVar	RCV002285074.1, VCV001706519.1	1

No genotype data were submitted for this variant

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