A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173128



Internal ID15855446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121422747..121570001hg38UCSC Ensembl
Innerchr1:121164607..121311799hg19UCSC Ensembl
Innerchr1:120866130..121013322hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38147255
hg19147193
hg18147193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547629
Supporting Variants
Samples1780862597_A
Known GenesEMBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173128
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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