A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065585



Internal ID18808116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:1733183..1918769hg38UCSC Ensembl
Innerchr17:1636477..1822063hg19UCSC Ensembl
Innerchr17:1583227..1768813hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38185587
hg19185587
hg18185587
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719139
Samples
Known GenesRPA1, SERPINF1, SERPINF2, SMYD4, WDR81
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1065585
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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