A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620185



Internal ID15819540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88811458..88980301hg38UCSC Ensembl
Outerchr2:89110972..89279820hg19UCSC Ensembl
Outerchr2:88892087..89060935hg18UCSC Ensembl
Outerchr2:88950234..89119082hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38168844
hg19168849
hg18168849
hg17168849
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508153
Supporting Variants
SamplesNA15510
Known GenesMIR4436A
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)nssv620185
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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