A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621038



Internal ID15820388
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
hg389543
hg199543
hg189543
hg179543
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509654
Supporting Variants
SamplesNA15510
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)nssv621038
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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