A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508148



Internal ID15479824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71120178..71201982hg38UCSC Ensembl
Outerchr2:71347308..71429112hg19UCSC Ensembl
Outerchr2:71200816..71282620hg18UCSC Ensembl
Outerchr2:71258963..71340767hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3881805
hg1981805
hg1881805
hg1781805
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620184
SamplesNA15510
Known GenesMCEE, MPHOSPH10, PAIP2B
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)nsv508148
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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