A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508291



Internal ID15479967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:78840057..78851762hg38UCSC Ensembl
Outerchr4:79761211..79772916hg19UCSC Ensembl
Outerchr4:79980235..79991940hg18UCSC Ensembl
Outerchr4:80118390..80130095hg17UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg3811706
hg1911706
hg1811706
hg1711706
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618743
SamplesNA10860
Known GenesBMP2K
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)nsv508291
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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