A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508983



Internal ID15476481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:197623882..197737338hg38UCSC Ensembl
Outerchr3:197350753..197464209hg19UCSC Ensembl
Outerchr3:198835150..198948606hg18UCSC Ensembl
Outerchr3:198839063..198952519hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384085
hg194085
hg184085
hg174085
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623404, nssv619355
SamplesNA18994, NA10860
Known GenesKIAA0226, LOC220729, MIR922
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)nsv508983
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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