A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509660



Internal ID15477158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:50020085..50083399hg38UCSC Ensembl
Outerchr17:48097449..48160763hg19UCSC Ensembl
Outerchr17:45452448..45515762hg18UCSC Ensembl
Outerchr17:45452448..45515762hg17UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg384337
hg194337
hg184337
hg174337
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623715
SamplesNA18994
Known GenesITGA3, LOC284080
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)nsv509660
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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