A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3747289



Internal ID18698884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69571455..71358233hg38UCSC Ensembl
Innerchr5:68867282..70654060hg19UCSC Ensembl
Innerchr5:68903038..70689816hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381786779
hg191786779
hg181786779
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024212
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP3, GUSBP9, LOC100272216, LOC441081, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3747289
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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