A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv625288



Internal ID15848824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70925412..70946165hg38UCSC Ensembl
Outerchr5:70925146..70947924hg38UCSC Ensembl
Innerchr5:70221239..70241992hg19UCSC Ensembl
Outerchr5:70220973..70243751hg19UCSC Ensembl
Innerchr5:70256995..70277748hg18UCSC Ensembl
Outerchr5:70256729..70279507hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3822779
hg1922779
hg1822779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv511305
Supporting Variants
Samples1
Known GenesSMN1, SMN2
MethodSNP array
AnalysisAnalysis of HGMDFN090 by Illumina HumanOmni1 Quad SNP array
PlatformGPL8882
Comments
ReferenceArlt_et_al_2011
Pubmed ID21212237
Accession Number(s)nssv625288
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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