A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619001



Internal ID15472119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:241983638..242088799hg38UCSC Ensembl
Outerchr1:242146940..242252101hg19UCSC Ensembl
Outerchr1:240213563..240318724hg18UCSC Ensembl
Outerchr1:238472981..238578142hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38105162
hg19105162
hg18105162
hg17105162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508703
Supporting Variants
SamplesNA10860
Known GenesMAP1LC3C, PLD5
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)nssv619001
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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