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dbVar

Database of genomic structural variation

nsv5600306

Organism: Homo sapiens

Study:nstd207 (Ebert et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:1,704

Publication(s):Ebert et al. 2021

Links to Other Resources

Overlapping Genes

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: 170 SVs from 33 studies. See in: genome view

Submitted genomic64,867,679-64,869,382

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5600306	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	64,867,679	64,869,382
nsv5600306	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	62,863,797	62,865,500

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17082671	deletion	SAMN00016965	Sequencing	Sequence alignment	1,475

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17082671	Submitted genomic		NC_000017.11:g.648 67679_64869382delC	GRCh38 (hg38)		NC_000017.11	Chr17	64,867,679	64,869,382
nssv17082671	Remapped	Perfect	NC_000017.10:g.628 63797_62865500delC	GRCh37.p13	First Pass	NC_000017.10	Chr17	62,863,797	62,865,500

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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