A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1151312



Internal ID15880456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:140671182..140730328hg38UCSC Ensembl
Innerchr2:141428751..141487897hg19UCSC Ensembl
Innerchr2:141145221..141204367hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3859147
hg1959147
hg1859147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583197
Supporting Variants
SamplesNINDS_212
Known GenesLRP1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1151312
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer