A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600731



Internal ID16041454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:181195615..181263936hg38UCSC Ensembl
Innerchr5:180622615..180690937hg19UCSC Ensembl
Innerchr5:180555221..180623543hg18UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3868322
hg1968323
hg1868323
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153382
Samples1780854339_A
Known GenesGNB2L1, MIR4638, SNORD95, SNORD96A, TRIM41, TRIM52, TRIM52-AS1, TRIM7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600731
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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