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dbVar

Database of genomic structural variation

nsv4715568

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:756

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: 11 SVs from 7 studies. See in: genome view

Remapped(Score: Good):6-761

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4715568	Remapped	Good	GRCh38.p12	Primary Assembly	Second Pass	NT_187364.1	Chr1\|NT_18 7364.1	6	761
nsv4715568	Remapped	Perfect	GRCh38.p12	ALT_REF_LOCI_1	First Pass	NT_187524.1	Chr2\|NT_18 7524.1	2,638	3,388
nsv4715568	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	91,595,651	91,596,401

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16234097	copy number variation	M456	Sequencing	Paired-end mapping	3	4,735
nssv16241263	copy number variation	M478	Sequencing	Paired-end mapping	3	4,557

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16234097	Remapped	Good	GRCh38.p12	Second Pass	NT_187364.1	Chr1\|NT_18 7364.1	6	761
nssv16241263	Remapped	Good	GRCh38.p12	Second Pass	NT_187364.1	Chr1\|NT_18 7364.1	6	761
nssv16234097	Remapped	Perfect	GRCh38.p12	First Pass	NT_187524.1	Chr2\|NT_18 7524.1	2,638	3,388
nssv16241263	Remapped	Perfect	GRCh38.p12	First Pass	NT_187524.1	Chr2\|NT_18 7524.1	2,638	3,388
nssv16234097	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	91,595,651	91,596,401
nssv16241263	Submitted genomic		GRCh37 (hg19)		NC_000002.11	Chr2	91,595,651	91,596,401

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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