A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509725



Internal ID15477223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19609994..19665351hg38UCSC Ensembl
Outerchr19:19720803..19776160hg19UCSC Ensembl
Outerchr19:19581803..19637160hg18UCSC Ensembl
Outerchr19:19581803..19637160hg17UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg383429
hg193429
hg183429
hg173429
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623751
SamplesNA18994
Known GenesATP13A1, GMIP, LPAR2, PBX4
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)nsv509725
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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