A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508403



Internal ID15480079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:35651268..35675991hg38UCSC Ensembl
Outerchr6:35619045..35643768hg19UCSC Ensembl
Outerchr6:35727023..35751746hg18UCSC Ensembl
Outerchr6:35727023..35751746hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3824724
hg1924724
hg1824724
hg1724724
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617517
SamplesCHM
Known GenesFKBP5, MIR5690
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)nsv508403
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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