A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618105



Internal ID15470574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:49744670..49785086hg38UCSC Ensembl
Outerchr14:50211388..50251804hg19UCSC Ensembl
Outerchr14:49281138..49321554hg18UCSC Ensembl
Outerchr14:49281138..49321554hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg385871
hg195871
hg185871
hg175871
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509533
Supporting Variants
SamplesCHM
Known GenesKLHDC1, KLHDC2, NEMF
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)nssv618105
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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