A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508176



Internal ID15824203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166497875..166533778hg38UCSC Ensembl
Outerchr2:167354385..167390288hg19UCSC Ensembl
Outerchr2:167062631..167098534hg18UCSC Ensembl
Outerchr2:167179892..167215795hg17UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3835904
hg1935904
hg1835904
hg1735904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620194, nssv618698, nssv622440
SamplesNA15510, NA18994, NA10860
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)nsv508176
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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