A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170016



Internal ID21314077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80357445..80394251hg38UCSC Ensembl
Outerchr17:80352501..80395224hg38UCSC Ensembl
Innerchr17:78331245..78368051hg19UCSC Ensembl
Outerchr17:78326301..78369024hg19UCSC Ensembl
Innerchr17:75945840..75982646hg18UCSC Ensembl
Outerchr17:75940896..75983619hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3842724
hg1942724
hg1842724
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14246120
SamplesPML_1
Known GenesLOC100294362, RNF213
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170016
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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