A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509721



Internal ID15477219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11525216..11691390hg38UCSC Ensembl
Outerchr19:11636031..11802205hg19UCSC Ensembl
Outerchr19:11497031..11663205hg18UCSC Ensembl
Outerchr19:11497031..11663205hg17UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg387172
hg197172
hg187172
hg177172
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619744
SamplesNA10860
Known GenesACP5, CNN1, ECSIT, ELOF1, ZNF627, ZNF833P
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)nsv509721
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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