A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619310



Internal ID15471205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:240333579..240490606hg38UCSC Ensembl
Outerchr2:241272996..241430023hg19UCSC Ensembl
Outerchr2:240921669..241078696hg18UCSC Ensembl
Outerchr2:240992986..241150013hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg386568
hg196568
hg186568
hg176568
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508899
Supporting Variants
SamplesNA10860
Known GenesANKMY1, GPC1, MIR149, PP14571
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)nssv619310
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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