A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575108



Internal ID16015831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:45511832..45519617hg38UCSC Ensembl
Innerchr17:43589198..43596983hg19UCSC Ensembl
Innerchr17:40944981..40952766hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg387786
hg197786
hg187786
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5611n54
Supporting Variantsnssv872248, nssv872246, nssv872247
Samples
Known GenesLRRC37A4P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575108
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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