A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509646



Internal ID15825672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:231783233..231810036hg38UCSC Ensembl
Outerchr1:231918979..231945782hg19UCSC Ensembl
Outerchr1:229985602..230012405hg18UCSC Ensembl
Outerchr1:228225714..228252517hg17UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg383559
hg193559
hg183559
hg173559
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623812, nssv619824, nssv617999
SamplesCHM, NA18994, NA10860
Known GenesDISC1, TSNAX-DISC1
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)nsv509646
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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