A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508396



Internal ID15480072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:24779420..24846081hg38UCSC Ensembl
Outerchr6:24779648..24846309hg19UCSC Ensembl
Outerchr6:24887627..24954288hg18UCSC Ensembl
Outerchr6:24887627..24954288hg17UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg3866662
hg1966662
hg1866662
hg1766662
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619971, nssv618785, nssv622543
SamplesNA18994, NA15510, NA10860
Known GenesFAM65B, GMNN, LOC101928603
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)nsv508396
Frequency
Sample Size4
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer