A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618717



Internal ID15471835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:120529727..120610577hg38UCSC Ensembl
Outerchr3:120248574..120329424hg19UCSC Ensembl
Outerchr3:121731264..121812114hg18UCSC Ensembl
Outerchr3:121731264..121812114hg17UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg3880851
hg1980851
hg1880851
hg1780851
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508238
Supporting Variants
SamplesNA10860
Known GenesNDUFB4
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)nssv618717
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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