A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555202



Internal ID15995925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64709578..64806117hg38UCSC Ensembl
Innerchr11:64477050..64573589hg19UCSC Ensembl
Innerchr11:64233626..64330165hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg3896540
hg1996540
hg1896540
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1967n54
Supporting Variantsnssv777167, nssv777166
Samples
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)nsv555202
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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