A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1024130



Internal ID15971400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9182264..9760487hg38UCSC Ensembl
Innerchr5:9182376..9760599hg19UCSC Ensembl
Innerchr5:9235376..9813599hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38578224
hg19578224
hg18578224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597071
Supporting Variants
Samples
Known GenesLOC285692, SEMA5A, SNHG18, SNORD123, TAS2R1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1024130
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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