A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034711



Internal ID15541211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69879007..71251494hg38UCSC Ensembl
Innerchr5:69174834..70547321hg19UCSC Ensembl
Innerchr5:69210590..70583077hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381372488
hg191372488
hg181372488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598474
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034711
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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