A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508844



Internal ID15824870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:79063093..79119645hg38UCSC Ensembl
Outerchr2:79290219..79346771hg19UCSC Ensembl
Outerchr2:79143727..79200279hg18UCSC Ensembl
Outerchr2:79201874..79258426hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg386427
hg196427
hg186427
hg176427
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623869
SamplesNA18994
Known GenesREG1B
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)nsv508844
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer