A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508443



Internal ID15480119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:5407652..5461491hg38UCSC Ensembl
Outerchr7:5447283..5501122hg19UCSC Ensembl
Outerchr7:5413809..5467648hg18UCSC Ensembl
Outerchr7:5220524..5274363hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg3853840
hg1953840
hg1853840
hg1753840
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622568
SamplesNA18994
Known GenesTNRC18
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)nsv508443
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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