A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064115



Internal ID18806646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:59122009..59291909hg38UCSC Ensembl
Innerchr17:57199370..57369270hg19UCSC Ensembl
Innerchr17:54554152..54724052hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38169901
hg19169901
hg18169901
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3271n100
Supporting Variantsnssv3567711
Samples
Known GenesGDPD1, MIR301A, MIR454, PRR11, SKA2, SMG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064115
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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