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dbVar

Database of genomic structural variation

nsv6309868

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:60,742

Description:NC_000016.9:g.(?_46694384)_(46755125_?)dup 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: 255 SVs from 52 studies. See in: genome view

Remapped(Score: Perfect):46,660,472-46,721,213

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309868	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	46,660,472	46,721,213
nsv6309868	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	46,694,384	46,755,125

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17971631	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV001958286.3, VCV001445538.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17971631	Remapped	Perfect	NC_000016.10:g.(?_ 46660472)_(4672121 3_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	46,660,472	46,721,213
nssv17971631	Submitted genomic		NC_000016.9:g.(?_4 6694384)_(46755125 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	46,694,384	46,755,125

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
nssv17971631	GRCh37: NC_000016.9:g.(?_46694384)_(46755125_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV001958286.3, VCV001445538.3

No genotype data were submitted for this variant

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