A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057488



Internal ID19146707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:72739481..72761686hg38UCSC Ensembl
Innerchr17:70735620..70757825hg19UCSC Ensembl
Innerchr17:68247215..68269420hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg3822206
hg1922206
hg1822206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567769
Samples
Known GenesSLC39A11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057488
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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