A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619436



Internal ID15471331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178743546..178806455hg38UCSC Ensembl
Outerchr5:178170547..178233456hg19UCSC Ensembl
Outerchr5:178103153..178166062hg18UCSC Ensembl
Outerchr5:178103153..178166062hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383056
hg193056
hg183056
hg173056
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509108
Supporting Variants
SamplesNA10860
Known GenesAACSP1
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)nssv619436
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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