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dbVar

Database of genomic structural variation

nsv4710511

Organism: Homo sapiens

Study:nstd195 (Mwapagha et al. 2021)
Variant Type:copy number variation
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:1
Validation:Not tested
Clinical Assertions: No
Region Size:651

Publication(s):Mwapagha 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: 13 SVs from 7 studies. See in: genome view

Remapped(Score: Good):3,550-4,194

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4710511	Remapped	Good	GRCh38.p12	Primary Assembly	Second Pass	NT_187364.1	Chr1\|NT_18 7364.1	3,550	4,194
nsv4710511	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187524.1	Chr2\|NT_18 7524.1	6,088	6,738
nsv4710511	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	91,599,101	91,599,751

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16248451	copy number variation	B450	Sequencing	Paired-end mapping	3	4,473

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16248451	Remapped	Good	GRCh38.p12	Second Pass	NT_187364.1	Chr1\|NT_18 7364.1	3,550	4,194
nssv16248451	Remapped	Perfect	GRCh38.p12	First Pass	NT_187524.1	Chr2\|NT_18 7524.1	6,088	6,738
nssv16248451	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	91,599,101	91,599,751

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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