A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508280



Internal ID15824307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:52958893..53041494hg38UCSC Ensembl
Outerchr4:53825060..53907661hg19UCSC Ensembl
Outerchr4:53519817..53602418hg18UCSC Ensembl
Outerchr4:53665988..53748589hg17UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3882602
hg1982602
hg1882602
hg1782602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622484
SamplesNA18994
Known GenesSCFD2
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)nsv508280
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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