A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1150783



Internal ID15508131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:86158605..86280565hg38UCSC Ensembl
Innerchr2:86385728..86507688hg19UCSC Ensembl
Innerchr2:86239239..86361199hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38121961
hg19121961
hg18121961
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv582372
Supporting Variants
Samples1780862345_A
Known GenesIMMT, MIR4779, MRPL35, REEP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1150783
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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