A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3500797



Internal ID18741752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121430457..121602283hg38UCSC Ensembl
Innerchr1:121172317..121344081hg19UCSC Ensembl
Innerchr1:120873840..121045604hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38171827
hg19171765
hg18171765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1001750
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)nssv3500797
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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