A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3604524



Internal ID18902805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:120763555..120864319hg38UCSC Ensembl
Innerchr3:120482402..120583166hg19UCSC Ensembl
Innerchr3:121965092..122065856hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38100765
hg19100765
hg18100765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014477
Supporting Variants
Samples
Known GenesGTF2E1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3604524
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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