A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv620126



Internal ID15472795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:26912462..26959506hg38UCSC Ensembl
Outerchr1:27238953..27285997hg19UCSC Ensembl
Outerchr1:27111540..27158584hg18UCSC Ensembl
Outerchr1:26923095..26970139hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3847045
hg1947045
hg1847045
hg1747045
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508689
Supporting Variants
SamplesNA15510
Known GenesC1orf172, NR0B2, NUDC
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)nssv620126
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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