A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509718



Internal ID15477216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3676947..3844683hg38UCSC Ensembl
Outerchr19:3676945..3844681hg19UCSC Ensembl
Outerchr19:3627945..3795681hg18UCSC Ensembl
Outerchr19:3627945..3795681hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3810055
hg1910055
hg1810055
hg1710055
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623748
SamplesNA18994
Known GenesAPBA3, MATK, MRPL54, PIP5K1C, RAX2, TJP3, ZFR2
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)nsv509718
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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