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dbVar

Database of genomic structural variation

nsv5577804

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:160

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: 138 SVs from 39 studies. See in: genome view

Submitted genomic30,815,711-30,815,870

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5577804	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	30,815,711	30,815,870
nsv5577804	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	30,783,488	30,783,647

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17146743	deletion	HG00512	Sequencing	Sequence alignment	6,637

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17146743	Submitted genomic		NC_000006.12:g.308 15711_30815870delG	GRCh38 (hg38)		NC_000006.12	Chr6	30,815,711	30,815,870
nssv17146743	Remapped	Perfect	NC_000006.11:g.307 83488_30783647delG	GRCh37.p13	First Pass	NC_000006.11	Chr6	30,783,488	30,783,647

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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