A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547664



Internal ID15988387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:145689573..145809105hg38UCSC Ensembl
Innerchr1:145625979..145745492hg19UCSC Ensembl
Innerchr1:144337336..144456849hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38119533
hg19119514
hg18119514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv531n54
Supporting Variantsnssv723071, nssv723070, nssv723069, nssv723072
Samples
Known GenesCD160, LOC100288142, NBPF10, PDZK1, RNF115
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547664
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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