A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067553



Internal ID18810084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82530808..83091923hg38UCSC Ensembl
Innerchr17:80488684..81049725hg19UCSC Ensembl
Innerchr17:78081973..78643088hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38561116
hg19561042
hg18561116
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567896
Samples
Known GenesB3GNTL1, FN3K, FN3KRP, FOXK2, METRNL, RAB40B, TBCD, WDR45B, ZNF750
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1067553
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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