A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508153



Internal ID15824180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:88811458..89166706hg38UCSC Ensembl
Outerchr2:89110972..89466190hg19UCSC Ensembl
Outerchr2:88892087..89247305hg18UCSC Ensembl
Outerchr2:88950234..89305452hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38355249
hg19355219
hg18355219
hg17355219
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620185, nssv619035, nssv622813
SamplesNA15510, NA18994, NA10860
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)nsv508153
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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