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dbVar

Database of genomic structural variation

nsv7006547

Organism: Homo sapiens

Study:nstd229 (Jun et al. 2023)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:58

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: 345 SVs from 24 studies. See in: genome view

Submitted genomic76,531,078-76,531,135

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7006547	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	76,531,078	76,531,135
nsv7006547	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	74,243,035	74,243,092

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18420149	deletion	Sequencing	Split read and paired-end mapping

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18420149	Submitted genomic		NC_000018.10:g.765 31078_76531135del	GRCh38 (hg38)		NC_000018.10	Chr18	76,531,078	76,531,135
nssv18420149	Remapped	Perfect	NC_000018.9:g.7424 3035_74243092del	GRCh37.p13	First Pass	NC_000018.9	Chr18	74,243,035	74,243,092

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)
nssv18420149	0.001	278	253362

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