A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623868



Internal ID15822441
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
hg384124
hg194124
hg184124
hg174124
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508842
Supporting Variants
SamplesNA18994
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)nssv623868
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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