A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508823



Internal ID15824849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:9734857..9825000hg38UCSC Ensembl
Outerchr2:9874986..9965129hg19UCSC Ensembl
Outerchr2:9792437..9882580hg18UCSC Ensembl
Outerchr2:9825584..9915727hg17UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg387184
hg197184
hg187184
hg177184
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619894, nssv623859
SamplesNA18994, 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)nsv508823
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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