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dbVar

Database of genomic structural variation

nsv5576452

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:82

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: 149 SVs from 37 studies. See in: genome view

Submitted genomic94,477,681-94,477,762

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5576452	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000001.11	Chr1	94,477,681	94,477,762
nsv5576452	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	94,943,237	94,943,318

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17067156	deletion	SAMN00006466	Sequencing	Sequence alignment	4,625

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17067156	Submitted genomic		NC_000001.11:g.944 77681_94477762delA	GRCh38 (hg38)		NC_000001.11	Chr1	94,477,681	94,477,762
nssv17067156	Remapped	Perfect	NC_000001.10:g.949 43237_94943318delA	GRCh37.p13	First Pass	NC_000001.10	Chr1	94,943,237	94,943,318

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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