A curated catalogue of human genomic structural variation

Variant Details

Variant: nssv19385

Internal ID

15828894

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:18595008..19956445	hg38	UCSC Ensembl
Outer	chr14:18591020..19957242	hg38	UCSC Ensembl
Inner	chr14:19371485..20424604	hg19	UCSC Ensembl
Outer	chr14:19367497..20425401	hg19	UCSC Ensembl
Inner	chr14:18441485..19494444	hg18	UCSC Ensembl
Outer	chr14:18437497..19495241	hg18	UCSC Ensembl
Inner	chr14:18441485..19494444	hg17	UCSC Ensembl
Outer	chr14:18437497..19495241	hg17	UCSC Ensembl

Cytoband

14q11.1

Allele length

Assembly	Allele length
hg38	1366223
hg19	1057905
hg18	1057745
hg17	1057745

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

S

Merged Variants

Supporting Variants

Samples

NA10847

Known Genes

BMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4K1, OR4K2, OR4K5, OR4M1, OR4N2, OR4Q3, POTEG, POTEM

Method

Oligo aCGH

Analysis

Statistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2

Platform

Agilent-015686 Custom Human 244K CGH Microarray

Comments

Reference

Perry_et_al_2008

Pubmed ID

Accession Number(s)

Frequency

Sample Size	31
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a