A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619749



Internal ID15471644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34354134..34412408hg38UCSC Ensembl
Outerchr19:34845039..34903313hg19UCSC Ensembl
Outerchr19:39536879..39595153hg18UCSC Ensembl
Outerchr19:39536879..39595153hg17UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3816840
hg1916840
hg1816840
hg1716840
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509738
Supporting Variants
SamplesNA10860
Known GenesGPI, KIAA0355, PDCD2L
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)nssv619749
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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