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dbVar

Database of genomic structural variation

nsv6043148

Organism: Homo sapiens

Study:nstd212 (Wu 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:601

Publication(s):Wu 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: 95 SVs from 33 studies. See in: genome view

Submitted genomic48,956,938-48,957,538

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv6043148	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000019.10	Chr19	48,956,938	48,957,538
nsv6043148	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	49,460,195	49,460,795

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv17631958	deletion	Sequencing	Sequence alignment

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv17631958	Submitted genomic		NC_000019.10:g.489 56938_48957538del	GRCh38 (hg38)		NC_000019.10	Chr19	48,956,938	48,957,538
nssv17631958	Remapped	Perfect	NC_000019.9:g.4946 0195_49460795del	GRCh37.p13	First Pass	NC_000019.9	Chr19	49,460,195	49,460,795

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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