A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618989



Internal ID15818793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152751679..152793956hg38UCSC Ensembl
Outerchr1:152724155..152766432hg19UCSC Ensembl
Outerchr1:150990779..151033056hg18UCSC Ensembl
Outerchr1:149537228..149579505hg17UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3842278
hg1942278
hg1842278
hg1742278
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508615
Supporting Variants
SamplesNA10860
Known GenesKPRP, LCE1E, LCE1F
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)nssv618989
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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