Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4716390

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:2

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: 154 SVs from 37 studies. See in: genome view

Remapped(Score: Perfect):60,604,039-60,604,040

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4716390	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	60,604,039	60,604,040
nsv4716390	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	61,069,711	61,069,712

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16247893	deletion	B450	Sequencing	Paired-end mapping	1	4,473

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16247893	Remapped	Perfect	NC_000001.11:g.606 04039_60604040del	GRCh38.p12	First Pass	NC_000001.11	Chr1	60,604,039	60,604,040
nssv16247893	Submitted genomic		NC_000001.10:g.610 69711_61069712del	GRCh37 (hg19)		NC_000001.10	Chr1	61,069,711	61,069,712

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.

You are here: NCBI