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dbVar

Database of genomic structural variation

nsv5598021

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:60

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

Submitted genomic29,559,453-29,559,512

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5598021	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000013.11	Chr13	29,559,453	29,559,512
nsv5598021	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000013.10	Chr13	30,133,590	30,133,649

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17085790	deletion	SAMN00249890	Sequencing	Sequence alignment	1,169

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17085790	Submitted genomic		NC_000013.11:g.295 59453_29559512delG	GRCh38 (hg38)		NC_000013.11	Chr13	29,559,453	29,559,512
nssv17085790	Remapped	Perfect	NC_000013.10:g.301 33590_30133649delG	GRCh37.p13	First Pass	NC_000013.10	Chr13	30,133,590	30,133,649

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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