A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508876



Internal ID15824902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:158275730..158340115hg38UCSC Ensembl
Outerchr2:159132242..159196627hg19UCSC Ensembl
Outerchr2:158840488..158904873hg18UCSC Ensembl
Outerchr2:158957750..159022135hg17UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg384184
hg194184
hg184184
hg174184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619294, nssv623878
SamplesNA18994, NA10860
Known GenesCCDC148
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)nsv508876
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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