A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063272



Internal ID18805803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:707786..789280hg38UCSC Ensembl
Innerchr17:611026..692520hg19UCSC Ensembl
Innerchr17:557776..639270hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg3881495
hg1981495
hg1881495
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560044
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)nsv1063272
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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