A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622418



Internal ID15817643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18458651..18553825hg38UCSC Ensembl
Outerchr17:18361965..18457139hg19UCSC Ensembl
Outerchr17:18302690..18397864hg18UCSC Ensembl
Outerchr17:18302690..18397864hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3895175
hg1995175
hg1895175
hg1795175
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511052
Supporting Variants
SamplesNA10860
Known GenesCCDC144B, FAM106A, LGALS9C, USP32P2
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)nssv622418
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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