A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508319



Internal ID15824346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:144391430..144400231hg38UCSC Ensembl
Outerchr4:145312582..145321383hg19UCSC Ensembl
Outerchr4:145532032..145540833hg18UCSC Ensembl
Outerchr4:145670187..145678988hg17UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg388802
hg198802
hg188802
hg178802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622502
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)nsv508319
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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