A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063195



Internal ID18805726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:82947423..82998143hg38UCSC Ensembl
Innerchr17:80905299..80956019hg19UCSC Ensembl
Innerchr17:78498588..78549308hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3850721
hg1950721
hg1850721
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3567905
Samples
Known GenesB3GNTL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063195
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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