A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618760



Internal ID15471878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:173598737..173648386hg38UCSC Ensembl
Outerchr4:174519888..174569537hg19UCSC Ensembl
Outerchr4:174756463..174806112hg18UCSC Ensembl
Outerchr4:174894618..174944267hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3849650
hg1949650
hg1849650
hg1749650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508334
Supporting Variants
SamplesNA10860
Known Genes
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)nssv618760
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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