A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3701241



Internal ID18999522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:61238294..61660298hg38UCSC Ensembl
Innerchr1:61703966..62125970hg19UCSC Ensembl
Innerchr1:61476554..61898558hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38422005
hg19422005
hg18422005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010797
Supporting Variants
Samples
Known GenesLOC645030, MGC34796, NFIA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3701241
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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