A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152996



Internal ID15880004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:7422655..7466630hg38UCSC Ensembl
Innerchr5:7422768..7466743hg19UCSC Ensembl
Innerchr5:7475768..7519743hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg3843976
hg1943976
hg1843976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597002
Supporting Variants
SamplesNINDS_14
Known GenesADCY2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152996
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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