A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597033



Internal ID16384442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:8702260..8746994hg38UCSC Ensembl
Innerchr5:8702372..8747106hg19UCSC Ensembl
Innerchr5:8755372..8800106hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3844735
hg1944735
hg1844735
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9569n54
Supporting Variantsnssv1153000, nssv1023915, nssv1153001, nssv1023917, nssv1023918, nssv1023914, nssv1023916, nssv1023919
Samples1788485381_A, NINDS_132
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597033
Frequency
Sample Size17421
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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