A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621640



Internal ID15474302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:45381881..45534031hg38UCSC Ensembl
Outerchr17:43459247..43611397hg19UCSC Ensembl
Outerchr17:40815030..40967180hg18UCSC Ensembl
Outerchr17:40815030..40967180hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38152151
hg19152151
hg18152151
hg17152151
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511056
Supporting Variants
SamplesNA15510
Known GenesARHGAP27, LRRC37A4P, MIR4315-1, MIR4315-2, PLEKHM1
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)nssv621640
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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