A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729377



Internal ID18680972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:232844856..232898760hg38UCSC Ensembl
Innerchr2:233709566..233763470hg19UCSC Ensembl
Innerchr2:233417810..233471714hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3853905
hg1953905
hg1853905
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1009825
Supporting Variants
Samples
Known GenesC2orf82, GIGYF2, NGEF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729377
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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