A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622469



Internal ID15474356
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 Flag1
Merged StatusS
Merged Variantsnsv508246
Supporting Variants
SamplesNA18994
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)nssv622469
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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