A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623435



Internal ID15822008
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
hg384178
hg194178
hg184178
hg174178
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509053
Supporting Variants
SamplesNA18994
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)nssv623435
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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