A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062194



Internal ID18804725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31755256..32041289hg38UCSC Ensembl
Innerchr17:30082275..30368308hg19UCSC Ensembl
Innerchr17:27106388..27392421hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38286034
hg19286034
hg18286034
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3561052
Samples
Known GenesCOPRS, LRRC37B, SH3GL1P1, SUZ12, UTP6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062194
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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