A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620842



Internal ID15820194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:181314916..181337385hg38UCSC Ensembl
Outerchr5:180741917..180764386hg19UCSC Ensembl
Outerchr5:180674523..180696992hg18UCSC Ensembl
Outerchr5:180674523..180696992hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg385914
hg195914
hg185914
hg175914
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509114
Supporting Variants
SamplesNA15510
Known GenesLOC100132062, LOC100132287, LOC100133331
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)nssv620842
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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