A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621585



Internal ID15474247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95201395..95226284hg38UCSC Ensembl
Outerchr5:94537099..94561988hg19UCSC Ensembl
Outerchr5:94562855..94587744hg18UCSC Ensembl
Outerchr5:94562855..94587744hg17UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3824890
hg1924890
hg1824890
hg1724890
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511111
Supporting Variants
SamplesNA15510
Known GenesMCTP1
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)nssv621585
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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