A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3480016



Internal ID18722267
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25247968..25361785hg38UCSC Ensembl
Innerchr1:25574459..25688276hg19UCSC Ensembl
Innerchr1:25447046..25560863hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38113818
hg19113818
hg18113818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv999277
Supporting Variants
Samples
Known GenesRHD, TMEM50A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3480016
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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