A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3560045



Internal ID18511640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:717681..865635hg38UCSC Ensembl
Innerchr17:620921..768875hg19UCSC Ensembl
Innerchr17:567671..715625hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38147955
hg19147955
hg18147955
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1058636
Supporting Variants
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, NXN, RNMTL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3560045
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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