A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3560046



Internal ID18511641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:729185..865635hg38UCSC Ensembl
Innerchr17:632425..768875hg19UCSC Ensembl
Innerchr17:579175..715625hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38136451
hg19136451
hg18136451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1066676
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)nssv3560046
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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