A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555203



Internal ID15995926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64709578..64817487hg38UCSC Ensembl
Innerchr11:64477050..64584959hg19UCSC Ensembl
Innerchr11:64233626..64341535hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38107910
hg19107910
hg18107910
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1967n54
Supporting Variantsnssv1174810, nssv1174809
Samples1782681313_A, 1780862093_A
Known GenesMAP4K2, MEN1, NRXN2, PYGM, RASGRP2, SF1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555203
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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