A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618990



Internal ID15472108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:169245682..169298840hg38UCSC Ensembl
Outerchr1:169214920..169268078hg19UCSC Ensembl
Outerchr1:167481544..167534702hg18UCSC Ensembl
Outerchr1:165946578..165999736hg17UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg3853159
hg1953159
hg1853159
hg1753159
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508637
Supporting Variants
SamplesNA10860
Known GenesNME7
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)nssv618990
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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