A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508340



Internal ID15480016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:186138019..186215804hg38UCSC Ensembl
Outerchr4:187059173..187136958hg19UCSC Ensembl
Outerchr4:187296167..187373952hg18UCSC Ensembl
Outerchr4:187434322..187512107hg17UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg3877786
hg1977786
hg1877786
hg1777786
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619951, nssv622513
SamplesNA15510, NA18994
Known GenesCYP4V2, FAM149A, FLJ38576
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)nsv508340
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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