A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509481



Internal ID15825507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:117726242..117796241hg38UCSC Ensembl
Outerchr12:118164047..118234046hg19UCSC Ensembl
Outerchr12:116648430..116718429hg18UCSC Ensembl
Outerchr12:116626767..116696766hg17UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg383358
hg193358
hg183358
hg173358
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623633
SamplesNA18994
Known GenesKSR2
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)nsv509481
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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