A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704847



Internal ID15094813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:33388257..33389120hg38UCSC Ensembl
Innerchr2:33613324..33614187hg19UCSC Ensembl
Innerchr2:33466828..33467691hg18UCSC Ensembl
Innerchr2:33524975..33525838hg17UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38864
hg19864
hg18864
hg17864
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528277
Supporting Variants
Samples
Known GenesLTBP1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704847
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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