A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3560537



Internal ID18512132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:19047542..20322438hg38UCSC Ensembl
Innerchr17:18950855..20225751hg19UCSC Ensembl
Innerchr17:18891580..20166343hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381274897
hg191274897
hg181274764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061317
Supporting Variants
Samples
Known GenesAKAP10, ALDH3A1, ALDH3A2, B9D1, CCDC144CP, EPN2, EPN2-AS1, EPN2-IT1, GRAPL, MAPK7, MFAP4, MIR1180, RNF112, SLC47A1, SLC47A2, SNORA59A, SNORA59B, SPECC1, ULK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3560537
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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