A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555196



Internal ID15995919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64589600..64792426hg38UCSC Ensembl
Innerchr11:64357072..64559898hg19UCSC Ensembl
Innerchr11:64113648..64316474hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38202827
hg19202827
hg18202827
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1965n54
Supporting Variantsnssv777160
Samples
Known GenesMAP4K2, NRXN2, PYGM, RASGRP2, SF1, SLC22A12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv555196
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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