A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582127



Internal ID16022850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63618350..64923736hg38UCSC Ensembl
Innerchr2:63845484..65150870hg19UCSC Ensembl
Innerchr2:63698988..65004374hg18UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381305387
hg191305387
hg181305387
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv911340
Samples
Known GenesAFTPH, LGALSL, LINC00309, LOC339807, LOC400958, MIR4434, PELI1, SERTAD2, UGP2, VPS54
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582127
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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