A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509053



Internal ID15825079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:7258634..7271486hg38UCSC Ensembl
Outerchr5:7258747..7271599hg19UCSC Ensembl
Outerchr5:7311747..7324599hg18UCSC Ensembl
Outerchr5:7311747..7324599hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg385338
hg195338
hg185338
hg175338
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619410, nssv623435
SamplesNA18994, NA10860
Known GenesMIR4454
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)nsv509053
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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