A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3719442



Internal ID18671037
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 StatusS
Merged Variantsnsv1064012
Supporting Variants
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)nssv3719442
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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