A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621641



Internal ID15820989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:64254455..64396455hg38UCSC Ensembl
Outerchr17:59685547..59823323hg18UCSC Ensembl
Outerchr17:59685547..59823323hg17UCSC Ensembl
Cytoband17q23.3
Allele length
AssemblyAllele length
hg38142001
hg18137777
hg17137777
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511058
Supporting Variants
SamplesNA15510
Known GenesPECAM1, TEX2
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)nssv621641
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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