A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1035033



Internal ID15541533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71010760..71097145hg38UCSC Ensembl
Innerchr5:70306587..70392972hg19UCSC Ensembl
Innerchr5:70342343..70428728hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3886386
hg1986386
hg1886386
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598605
Supporting Variants
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)nssv1035033
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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