A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv555198



Internal ID15995921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:64606427..64806117hg38UCSC Ensembl
Innerchr11:64373899..64573589hg19UCSC Ensembl
Innerchr11:64130475..64330165hg18UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38199691
hg19199691
hg18199691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1965n54
Supporting Variantsnssv777162
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)nsv555198
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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