A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508865



Internal ID15476363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:127888968..127971794hg38UCSC Ensembl
Outerchr2:128646542..128729368hg19UCSC Ensembl
Outerchr2:128363012..128445838hg18UCSC Ensembl
Outerchr2:128362772..128445598hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383442
hg193442
hg183442
hg173442
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619290
SamplesNA10860
Known GenesSAP130
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)nsv508865
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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