A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618004



Internal ID15817159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:57821581..57839603hg38UCSC Ensembl
Outerchr2:58048716..58066738hg19UCSC Ensembl
Outerchr2:57902220..57920242hg18UCSC Ensembl
Outerchr2:57960367..57978389hg17UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg384371
hg194371
hg184371
hg174371
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508840
Supporting Variants
SamplesCHM
Known Genes
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)nssv618004
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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