A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597118



Internal ID16037841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10273860..10278491hg38UCSC Ensembl
Innerchr5:10273972..10278603hg19UCSC Ensembl
Innerchr5:10326972..10331603hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg384632
hg194632
hg184632
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1025209, nssv1025208
Samples
Known GenesCMBL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597118
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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