A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3702072



Internal ID18653667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121430457..121597138hg38UCSC Ensembl
Innerchr1:121172317..121338936hg19UCSC Ensembl
Innerchr1:120873840..121040459hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38166682
hg19166620
hg18166620
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1000212
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)nssv3702072
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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