A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508335



Internal ID15824362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:174040571..174073941hg38UCSC Ensembl
Outerchr4:174961722..174995092hg19UCSC Ensembl
Outerchr4:175198297..175231667hg18UCSC Ensembl
Outerchr4:175336452..175369822hg17UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3833371
hg1933371
hg1833371
hg1733371
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622511
SamplesNA18994
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)nsv508335
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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