A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508768



Internal ID15824795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:892077..966324hg38UCSC Ensembl
Outerchr2:887763..962010hg19UCSC Ensembl
Outerchr2:877763..952010hg18UCSC Ensembl
Outerchr2:877763..952010hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg383374
hg193374
hg183374
hg173374
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619889, nssv621158
SamplesNA15510, NA10860
Known GenesSNTG2
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)nsv508768
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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