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dbVar

Database of genomic structural variation

nsv7006843

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:10,700

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: 195 SVs from 49 studies. See in: genome view

Submitted genomic48,697,101-48,707,800

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7006843	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	48,697,101	48,707,800
nsv7006843	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	49,200,358	49,211,057

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv18424027	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
nssv18424027	Submitted genomic		NC_000019.10:g.486 97101_48707800del	GRCh38 (hg38)		NC_000019.10	Chr19	48,697,101	48,707,800
nssv18424027	Remapped	Perfect	NC_000019.9:g.4920 0358_49211057del	GRCh37.p13	First Pass	NC_000019.9	Chr19	49,200,358	49,211,057

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)
nssv18424027	0.002	538	253236

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