A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509664



Internal ID15477162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:62604969..62699322hg38UCSC Ensembl
Outerchr17:60682330..60776683hg19UCSC Ensembl
Outerchr17:58036062..58130415hg18UCSC Ensembl
Outerchr17:58036062..58130415hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg384189
hg194189
hg184189
hg174189
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623718
SamplesNA18994
Known GenesMRC2, TLK2
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)nsv509664
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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