A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508664



Internal ID15824691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:8298280..8452095hg38UCSC Ensembl
Outerchr12:8450876..8604691hg19UCSC Ensembl
Outerchr12:8342143..8495958hg18UCSC Ensembl
Outerchr12:8342143..8495958hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38153816
hg19153816
hg18153816
hg17153816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620033, nssv617396, nssv618840, nssv622642, nssv622639
SamplesCHM, NA15510, NA18994, NA10860
Known GenesLINC00937
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)nsv508664
Frequency
Sample Size4
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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