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dbVar

Database of genomic structural variation

nsv4349554

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:144,862,338

Description:
See descriptions for individual calls in download files

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: 401266 SVs from 152 studies. See in: genome view

Remapped(Score: Good):208,048-145,070,385

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4349554	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	208,048	145,070,385
nsv4349554	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	158,048	146,295,771

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15777239	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000848478.2, VCV000687787.2	3
nssv17976962	copy number gain	Multiple	Multiple	POLYDACTYLY; Polydactyly; Polydactyly	Pathogenic	ClinVar	RCV002280629.1, VCV001703544.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15777239	Remapped	Good	NC_000008.11:g.(?_ 208048)_(145070385 _?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	208,048	145,070,385
nssv17976962	Remapped	Good	NC_000008.11:g.(?_ 208048)_(145070385 _?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	208,048	145,070,385
nssv15777239	Submitted genomic		NC_000008.10:g.(?_ 158048)_(146295771 _?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	158,048	146,295,771
nssv17976962	Submitted genomic		NC_000008.10:g.(?_ 158048)_(146295771 _?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	158,048	146,295,771

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
nssv15777239	GRCh37: NC_000008.10:g.(?_158048)_(146295771_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000848478.2, VCV000687787.2	3
nssv17976962	GRCh37: NC_000008.10:g.(?_158048)_(146295771_?)dup	copy number gain	unknown	POLYDACTYLY; Polydactyly; Polydactyly	Pathogenic	ClinVar	RCV002280629.1, VCV001703544.1

No genotype data were submitted for this variant

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