A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3500328



Internal ID19087969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:150370207..150456343hg38UCSC Ensembl
Innerchr1:150342683..150428819hg19UCSC Ensembl
Innerchr1:148609307..148695443hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3886137
hg1986137
hg1886137
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999536
Supporting Variants
Samples
Known GenesRPRD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3500328
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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