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dbVar

Database of genomic structural variation

nsv5600491

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:66

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: 91 SVs from 23 studies. See in: genome view

Submitted genomic45,874,484-45,874,549

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5600491	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000011.10	Chr11	45,874,484	45,874,549
nsv5600491	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000011.9	Chr11	45,896,035	45,896,100

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17074718	deletion	NA12329	Sequencing	Sequence alignment	1,517

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17074718	Submitted genomic		NC_000011.10:g.458 74484_45874549delA	GRCh38 (hg38)		NC_000011.10	Chr11	45,874,484	45,874,549
nssv17074718	Remapped	Perfect	NC_000011.9:g.4589 6035_45896100delA	GRCh37.p13	First Pass	NC_000011.9	Chr11	45,896,035	45,896,100

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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