A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619959



Internal ID15472630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:70384945..70678746hg38UCSC Ensembl
Outerchr5:69680772..69974573hg19UCSC Ensembl
Outerchr5:69716528..70010329hg18UCSC Ensembl
Outerchr5:69716528..70010329hg17UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38293802
hg19293802
hg18293802
hg17293802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508367
Supporting Variants
SamplesNA15510
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, SMA4, SMA5
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)nssv619959
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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