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dbVar

Database of genomic structural variation

nsv5578224

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:69

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: 142 SVs from 40 studies. See in: genome view

Submitted genomic118,066,709-118,066,777

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv5578224	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000004.12	Chr4	118,066,709	118,066,777
nsv5578224	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000004.11	Chr4	118,987,864	118,987,932

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv17122250	deletion	SAMN00006579	Sequencing	Sequence alignment	23,265

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17122250	Submitted genomic		NC_000004.12:g.118 066709_118066777de lT	GRCh38 (hg38)		NC_000004.12	Chr4	118,066,709	118,066,777
nssv17122250	Remapped	Perfect	NC_000004.11:g.118 987864_118987932de lT	GRCh37.p13	First Pass	NC_000004.11	Chr4	118,987,864	118,987,932

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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