A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618768



Internal ID15818572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:64590035..64673379hg38UCSC Ensembl
Outerchr5:63885862..63969206hg19UCSC Ensembl
Outerchr5:63921618..64004962hg18UCSC Ensembl
Outerchr5:63921618..64004962hg17UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3883345
hg1983345
hg1883345
hg1783345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508364
Supporting Variants
SamplesNA10860
Known GenesRGS7BP
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)nssv618768
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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