A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508250



Internal ID15479926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:143123612..143224880hg38UCSC Ensembl
Outerchr3:142842454..142943722hg19UCSC Ensembl
Outerchr3:144325144..144426412hg18UCSC Ensembl
Outerchr3:144325152..144426420hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38101269
hg19101269
hg18101269
hg17101269
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619924
SamplesNA15510
Known GenesCHST2
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)nsv508250
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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