A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508581



Internal ID15480257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:24884488..24968228hg38UCSC Ensembl
Outerchr1:25210979..25294719hg19UCSC Ensembl
Outerchr1:25083566..25167306hg18UCSC Ensembl
Outerchr1:24956285..25040025hg17UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3883741
hg1983741
hg1883741
hg1783741
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622760
SamplesNA18994
Known GenesMIR6731, RUNX3
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)nsv508581
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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