A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508504



Internal ID15824531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:111365418..111409068hg38UCSC Ensembl
Outerchr1:111908040..111951690hg19UCSC Ensembl
Outerchr1:111709563..111753213hg18UCSC Ensembl
Outerchr1:111620082..111663732hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3843651
hg1943651
hg1843651
hg1743651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618983
SamplesNA10860
Known GenesPGCP1
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)nsv508504
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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