A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064012



Internal ID18806543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42427786..42606703hg38UCSC Ensembl
Innerchr17:40579804..40758721hg19UCSC Ensembl
Innerchr17:37833330..38012247hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg38178918
hg19178918
hg18178918
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719442
Samples
Known GenesATP6V0A1, COASY, FAM134C, HSD17B1, MIR5010, MLX, NAGLU, PSMC3IP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064012
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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