A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508678



Internal ID15480354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:26051066..26106136hg38UCSC Ensembl
Outerchr1:26377557..26432627hg19UCSC Ensembl
Outerchr1:26250144..26305214hg18UCSC Ensembl
Outerchr1:26061699..26116769hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3855071
hg1955071
hg1855071
hg1755071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622761
SamplesNA18994
Known GenesTRIM63
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)nsv508678
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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