A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064611



Internal ID18807142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:30466299..30587613hg38UCSC Ensembl
Innerchr17:28793317..28914631hg19UCSC Ensembl
Innerchr17:25817443..25938757hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38121315
hg19121315
hg18121315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3561046
Samples
Known GenesCPD, GOSR1, LRRC37BP1, TBC1D29
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064611
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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