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dbVar

Database of genomic structural variation

nsv3902289

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:66,290

Description:GRCh37/hg19 8q21.2(chr8:86021909-86088198)x3 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: 230 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):85,109,674-85,175,963

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3902289	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	85,109,674	85,175,963
nsv3902289	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	86,021,909	86,088,198

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15169308	copy number gain	Multiple	Multiple	not provided	Benign	ClinVar	RCV000747687.2, VCV000611051.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15169308	Remapped	Perfect	NC_000008.11:g.(?_ 85109674)_(8517596 3_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	85,109,674	85,175,963
nssv15169308	Submitted genomic		NC_000008.10:g.(?_ 86021909)_(8608819 8_?)dup	GRCh37 (hg19)		NC_000008.10	Chr8	86,021,909	86,088,198

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
nssv15169308	GRCh37: NC_000008.10:g.(?_86021909)_(86088198_?)dup	copy number gain	unknown	not provided	Benign	ClinVar	RCV000747687.2, VCV000611051.2	3

No genotype data were submitted for this variant

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