A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598575



Internal ID16039298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71003941..71080664hg38UCSC Ensembl
Innerchr5:70299768..70376491hg19UCSC Ensembl
Innerchr5:70335524..70412247hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3876724
hg1976724
hg1876724
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9862n54
Supporting Variantsnssv1034959, nssv1034961, nssv1034960
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598575
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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