A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508842



Internal ID15824868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:73778720..73811850hg38UCSC Ensembl
Outerchr2:74005847..74038977hg19UCSC Ensembl
Outerchr2:73859355..73892485hg18UCSC Ensembl
Outerchr2:73917502..73950632hg17UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg388150
hg198150
hg188150
hg178150
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621169, nssv623868, nssv619906
SamplesNA15510, NA18994, NA10860
Known GenesC2orf78, DUSP11
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)nsv508842
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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