A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510575



Internal ID15478071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:119865359..119999686hg38UCSC Ensembl
Outerchr12:120303163..120437490hg19UCSC Ensembl
Outerchr12:118787546..118921873hg18UCSC Ensembl
Outerchr12:118765883..118900210hg17UCSC Ensembl
Cytoband12q24.23
Allele length
AssemblyAllele length
hg38134328
hg19134328
hg18134328
hg17134328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622665, nssv622666
SamplesNA18994
Known GenesCCDC64, CIT
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)nsv510575
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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