A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508265



Internal ID15479941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189636239..189660195hg38UCSC Ensembl
Outerchr3:189354028..189377984hg19UCSC Ensembl
Outerchr3:190836722..190860678hg18UCSC Ensembl
Outerchr3:190836730..190860686hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3823957
hg1923957
hg1823957
hg1723957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622475
SamplesNA18994
Known GenesTP63
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)nsv508265
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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