A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510590



Internal ID15826614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:115047216..115099311hg38UCSC Ensembl
Outerchr12:115485021..115537116hg19UCSC Ensembl
Outerchr12:113969404..114021499hg18UCSC Ensembl
Outerchr12:113947741..113999836hg17UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3852096
hg1952096
hg1852096
hg1752096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620054
SamplesNA15510
Known Genes
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)nsv510590
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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