A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508499



Internal ID15480175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:23452508..23565200hg38UCSC Ensembl
Outerchr8:23310021..23422713hg19UCSC Ensembl
Outerchr8:23365966..23478658hg18UCSC Ensembl
Outerchr8:23365966..23478658hg17UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg38112693
hg19112693
hg18112693
hg17112693
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620004
SamplesNA15510
Known GenesENTPD4, SLC25A37
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)nsv508499
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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