A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619896



Internal ID15818477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10352197..10426456hg38UCSC Ensembl
Outerchr2:10492323..10566582hg19UCSC Ensembl
Outerchr2:10409774..10484033hg18UCSC Ensembl
Outerchr2:10442921..10517180hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg386927
hg196927
hg186927
hg176927
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508827
Supporting Variants
SamplesNA10860
Known GenesHPCAL1
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv619896
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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