A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062056



Internal ID18804587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:28376191..28452023hg38UCSC Ensembl
Innerchr17:26703210..26779041hg19UCSC Ensembl
Innerchr17:23727337..23803168hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg3875833
hg1975832
hg1875832
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3561044
Samples
Known GenesSARM1, SLC46A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062056
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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