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

dbVar

Database of genomic structural variation

nsv4714300

Organism: Homo sapiens

Study:nstd195 (Mwapagha et al. 2021)
Variant Type:tandem duplication
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: 514 SVs from 63 studies. See in: genome view

Remapped(Score: Perfect):30,173,030-30,173,031

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4714300	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	30,173,030	30,173,031
nsv4714300	Remapped	Perfect	GRCh38.p12	PATCHES	Second Pass	NW_012132920.1	Chr15\|NW_0 12132920.1	160,711	160,712
nsv4714300	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	30,465,233	30,465,234

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv16250540	tandem duplication	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
nssv16250540	Remapped	Perfect	NW_012132920.1:g.1 60711_160712dup	GRCh38.p12	Second Pass	NW_012132920.1	Chr15\|NW_0 12132920.1	160,711	160,712
nssv16250540	Remapped	Perfect	NC_000015.10:g.301 73030_30173031dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	30,173,030	30,173,031
nssv16250540	Submitted genomic		NC_000015.9:g.3046 5233_30465234dup	GRCh37 (hg19)		NC_000015.9	Chr15	30,465,233	30,465,234

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