A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062980



Internal ID18805511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82408938..82687942hg38UCSC Ensembl
Innerchr17:80366814..80645818hg19UCSC Ensembl
Innerchr17:77960103..78239107hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38279005
hg19279005
hg18279005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567894
Samples
Known GenesC17orf62, FOXK2, HEXDC, NARF, OGFOD3, RAB40B, WDR45B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062980
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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