A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508321



Internal ID15824348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:151488842..151553304hg38UCSC Ensembl
Outerchr4:152409994..152474456hg19UCSC Ensembl
Outerchr4:152629444..152693906hg18UCSC Ensembl
Outerchr4:152767599..152832061hg17UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3864463
hg1964463
hg1864463
hg1764463
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622504
SamplesNA18994
Known GenesFAM160A1
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)nsv508321
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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