A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705247



Internal ID15441899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:140583057..140592531hg38UCSC Ensembl
Innerchr2:141340626..141350100hg19UCSC Ensembl
Innerchr2:141057096..141066570hg18UCSC Ensembl
Innerchr2:141174358..141183832hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg389475
hg199475
hg189475
hg179475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528618
Supporting Variants
Samples
Known GenesLRP1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705247
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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