A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508194



Internal ID15824221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:200039679..200117206hg38UCSC Ensembl
Outerchr2:200904402..200981929hg19UCSC Ensembl
Outerchr2:200612647..200690174hg18UCSC Ensembl
Outerchr2:200729908..200807435hg17UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3877528
hg1977528
hg1877528
hg1777528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618704
SamplesNA10860
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)nsv508194
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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