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dbVar

Database of genomic structural variation

nsv6312728

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:1,051,726

Description:NC_000008.10:g.(?_56854419)_(57906144_?)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: 2730 SVs from 96 studies. See in: genome view

Remapped(Score: Perfect):55,941,860-56,993,585

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6312728	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	55,941,860	56,993,585
nsv6312728	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	56,854,419	57,906,144

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17973518	duplication	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002020622.3, VCV001511848.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17973518	Remapped	Perfect	NC_000008.11:g.(?_ 55941860)_(5699358 5_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	55,941,860	56,993,585
nssv17973518	Submitted genomic		NC_000008.10:g.(?_ 56854419)_(5790614 4_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	56,854,419	57,906,144

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
nssv17973518	GRCh37: NC_000008.10:g.(?_56854419)_(57906144_?)dup	duplication	germline	not provided	Uncertain significance	ClinVar	RCV002020622.3, VCV001511848.3

No genotype data were submitted for this variant

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