A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508246



Internal ID15479922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:136203181..136319780hg38UCSC Ensembl
Outerchr3:135922023..136038622hg19UCSC Ensembl
Outerchr3:137404713..137521312hg18UCSC Ensembl
Outerchr3:137404721..137521320hg17UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg38116600
hg19116600
hg18116600
hg17116600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618720, nssv622469
SamplesNA18994, NA10860
Known GenesPCCB
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)nsv508246
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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