A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623713



Internal ID15822286
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
hg388727
hg198727
hg188727
hg178727
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509654
Supporting Variants
SamplesNA18994
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)nssv623713
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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