A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509714



Internal ID15477212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2519629..2794403hg38UCSC Ensembl
Outerchr19:2519627..2794401hg19UCSC Ensembl
Outerchr19:2470627..2745401hg18UCSC Ensembl
Outerchr19:2470627..2745401hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg385259
hg195259
hg185259
hg175259
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623741, nssv623742
SamplesNA18994
Known GenesDIRAS1, GNG7, SGTA, SLC39A3, THOP1
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)nsv509714
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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