A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv617456



Internal ID15816611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:16858285..16888895hg38UCSC Ensembl
Outerchr2:17039552..17070162hg19UCSC Ensembl
Outerchr2:16903033..16933643hg18UCSC Ensembl
Outerchr2:16961180..16991790hg17UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg3830611
hg1930611
hg1830611
hg1730611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508713
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)nssv617456
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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