A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623796



Internal ID15475683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154904407..154966788hg38UCSC Ensembl
Outerchr1:154876883..154939264hg19UCSC Ensembl
Outerchr1:153143507..153205888hg18UCSC Ensembl
Outerchr1:151689956..151752337hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg383518
hg193518
hg183518
hg173518
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509502
Supporting Variants
SamplesNA18994
Known GenesPBXIP1, PMVK, PYGO2, SHC1
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)nssv623796
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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