A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1035042



Internal ID15541542
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71011195..71042023hg38UCSC Ensembl
Innerchr5:70307022..70337850hg19UCSC Ensembl
Innerchr5:70342778..70373606hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3830829
hg1930829
hg1830829
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598613
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1035042
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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