A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3560041



Internal ID18511636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:567977..797758hg38UCSC Ensembl
Innerchr17:471217..700998hg19UCSC Ensembl
Innerchr17:417967..647748hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38229782
hg19229782
hg18229782
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1064955
Supporting Variants
Samples
Known GenesDBIL5P, FAM57A, GEMIN4, GLOD4, RNMTL1, VPS53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3560041
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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