A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508394



Internal ID15480070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:12285231..12386513hg38UCSC Ensembl
Outerchr6:12285464..12386745hg19UCSC Ensembl
Outerchr6:12393450..12494731hg18UCSC Ensembl
Outerchr6:12393450..12494731hg17UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg38101283
hg19101282
hg18101282
hg17101282
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618784
SamplesNA10860
Known GenesEDN1
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)nsv508394
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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