A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509588



Internal ID15477086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2919880..3043776hg38UCSC Ensembl
Outerchr16:2969881..3093777hg19UCSC Ensembl
Outerchr16:2909882..3033778hg18UCSC Ensembl
Outerchr16:2909882..3033778hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg388706
hg198706
hg188706
hg178706
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619677
SamplesNA10860
Known GenesCCDC64B, CLDN6, CLDN9, FLYWCH1, HCFC1R1, KREMEN2, LINC00514, LOC100128770, PAQR4, PKMYT1, THOC6, TNFRSF12A
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)nsv509588
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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