A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508873



Internal ID15476371
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:148598370..148653458hg38UCSC Ensembl
Outerchr2:149355939..149411027hg19UCSC Ensembl
Outerchr2:149072409..149127497hg18UCSC Ensembl
Outerchr2:149189671..149244759hg17UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg383028
hg193028
hg183028
hg173028
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623876
SamplesNA18994
Known GenesEPC2
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)nsv508873
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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