A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3485980



Internal ID19073621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121430457..121741169hg38UCSC Ensembl
Innerchr1:121172317..121482967hg19UCSC Ensembl
Innerchr1:120873840..121184490hg18UCSC Ensembl
Cytoband1p11.1
Allele length
AssemblyAllele length
hg38310713
hg19310651
hg18310651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007994
Supporting Variants
Samples
Known GenesEMBP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3485980
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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