A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3747302



Internal ID18698897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69779138..71095414hg38UCSC Ensembl
Innerchr5:69074965..70391241hg19UCSC Ensembl
Innerchr5:69110721..70426997hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381316277
hg191316277
hg181316277
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031087
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, 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)nssv3747302
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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