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dbVar

Database of genomic structural variation

nsv6274774

Organism: Homo sapiens

Study:nstd214 (Naslavsky et al. 2022)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:80

Publication(s):Naslavsky et al. 2022

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: 197 SVs from 15 studies. See in: genome view

Submitted genomic59,038,768-59,038,847

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6274774	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	59,038,768	59,038,847
nsv6274774	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	56,706,000	56,706,079

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17933475	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17933475	Submitted genomic		NC_000018.10:g.590 38768_59038847del	GRCh38 (hg38)		NC_000018.10	Chr18	59,038,768	59,038,847
nssv17933475	Remapped	Perfect	NC_000018.9:g.5670 6000_56706079del	GRCh37.p13	First Pass	NC_000018.9	Chr18	56,706,000	56,706,079

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.

Genotype Information

Variant Call ID	Allele Frequency (AF)	Allele Count (AC)	Allele Number (AN)
nssv17933475	<0.001	1	2338

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