A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv553002



Internal ID16340411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:1618794..1641306hg38UCSC Ensembl
Innerchr11:1640024..1662536hg19UCSC Ensembl
Innerchr11:1596600..1619112hg18UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3822513
hg1922513
hg1822513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1174278
SamplesNINDS_3
Known GenesKRTAP5-4, KRTAP5-5, MOB2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv553002
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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