A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173132



Internal ID15880585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:121458637..121570001hg38UCSC Ensembl
Innerchr1:121200490..121311799hg19UCSC Ensembl
Innerchr1:120902013..121013322hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38111365
hg19111310
hg18111310
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547634
Supporting Variants
SamplesNINDS_230
Known GenesEMBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173132
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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