A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575114



Internal ID16015837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45512721..45520038hg38UCSC Ensembl
Innerchr17:43590087..43597404hg19UCSC Ensembl
Innerchr17:40945870..40953187hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387318
hg197318
hg187318
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5611n54
Supporting Variantsnssv872254
Samples
Known GenesLRRC37A4P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575114
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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