A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057312



Internal ID18799843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:58748383..58804942hg38UCSC Ensembl
Innerchr17:56825744..56882303hg19UCSC Ensembl
Innerchr17:54180743..54237302hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3856560
hg1956560
hg1856560
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3725139
Samples
Known GenesPPM1E
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057312
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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