A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508854



Internal ID15476352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:108903127..108964095hg38UCSC Ensembl
Outerchr2:109519583..109580551hg19UCSC Ensembl
Outerchr2:108886015..108946983hg18UCSC Ensembl
Outerchr2:108978101..109039069hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg383195
hg193195
hg183195
hg173195
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619913
SamplesNA10860
Known GenesEDAR
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)nsv508854
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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