A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv517174

Internal ID

15444467

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:20875005..20952929	hg38	UCSC Ensembl
Inner	chr14:21343164..21421088	hg19	UCSC Ensembl
Inner	chr14:20413004..20490928	hg18	UCSC Ensembl
Inner	chr14:20413004..20490928	hg17	UCSC Ensembl

Cytoband

14q11.2

Allele length

Assembly	Allele length
hg38	77925
hg19	77925
hg18	77925
hg17	77925

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv692116, nssv670469, nssv684018, nssv686528, nssv652578, nssv700970, nssv654950, nssv658491, nssv689395, nssv675256, nssv693686, nssv662924, nssv687610, nssv684992, nssv652835, nssv683945, nssv676032, nssv671044, nssv653675, nssv684436, nssv657492, nssv692254, nssv690911, nssv666780, nssv666074, nssv661899, nssv656509, nssv683885, nssv677724, nssv683303, nssv684162, nssv684904, nssv659416, nssv675630, nssv670117, nssv691901, nssv700377, nssv694148, nssv679725, nssv653187, nssv682876, nssv679640, nssv681155, nssv673474, nssv669237, nssv666990, nssv659608, nssv664308, nssv693491, nssv677670, nssv680480, nssv676735, nssv688652, nssv689572, nssv677147, nssv658223, nssv661014, nssv660888, nssv671770, nssv658320, nssv651935, nssv688614, nssv686489, nssv675161, nssv687516, nssv691417, nssv652457, nssv658817, nssv663573, nssv692373, nssv673531, nssv667562, nssv655686, nssv667914, nssv659068, nssv665990, nssv685726, nssv692486, nssv667361, nssv658765, nssv671928, nssv693930, nssv676416, nssv664849, nssv678003, nssv686336, nssv668939, nssv669743, nssv670507, nssv664453, nssv670607, nssv667744, nssv678844, nssv654668, nssv693403, nssv666046, nssv671118, nssv677570, nssv680909, nssv693897, nssv654470, nssv660587, nssv702506

Samples

Known Genes

Method

SNP array

Analysis

Sample-level CNVs

Platform

GPL6434

Comments

Reference

Shaikh_et_al_2009

Pubmed ID

Accession Number(s)

Frequency

Sample Size	2026
Observed Gain	3
Observed Loss	100
Observed Complex	0
Frequency	n/a