A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509101



Internal ID15476599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177044099..177135363hg38UCSC Ensembl
Outerchr5:176471100..176562364hg19UCSC Ensembl
Outerchr5:176403706..176494970hg18UCSC Ensembl
Outerchr5:176403706..176494970hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg383838
hg193838
hg183838
hg173838
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619430
SamplesNA10860
Known GenesFGFR4, NSD1, ZNF346
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)nsv509101
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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