A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509116



Internal ID15825142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:12104767..12138288hg38UCSC Ensembl
Outerchr6:12105000..12138521hg19UCSC Ensembl
Outerchr6:12212986..12246507hg18UCSC Ensembl
Outerchr6:12212986..12246507hg17UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg383263
hg193263
hg183263
hg173263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618049
SamplesCHM
Known GenesHIVEP1
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)nsv509116
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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