A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058347



Internal ID19147566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:13275120..13331519hg38UCSC Ensembl
Innerchr17:13178437..13234836hg19UCSC Ensembl
Innerchr17:13119162..13175561hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3856400
hg1956400
hg1856400
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3100n100
Supporting Variantsnssv3719172, nssv3719173
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058347
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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