A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509654



Internal ID15825680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:36418517..36484975hg38UCSC Ensembl
Outerchr17:34787076..34840819hg19UCSC Ensembl
Outerchr17:31861189..31914932hg18UCSC Ensembl
Outerchr17:31861189..31914932hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3814476
hg1914476
hg1814476
hg1714476
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621038, nssv623713, nssv619711
SamplesNA15510, NA18994, NA10860
Known GenesTBC1D3G
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)nsv509654
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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