A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596932



Internal ID16384341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:4745735..4785276hg38UCSC Ensembl
Innerchr5:4745848..4785389hg19UCSC Ensembl
Innerchr5:4798848..4838389hg18UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg3839542
hg1939542
hg1839542
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152993
Samples1780854538_A
Known GenesLOC101929153
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596932
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer