A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010008



Internal ID19099227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141816837..141848452hg38UCSC Ensembl
Innerchr2:142574406..142606021hg19UCSC Ensembl
Innerchr2:142290876..142322491hg18UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3831616
hg1931616
hg1831616
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582812
Samples
Known GenesLRP1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010008
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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