A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061331



Internal ID18803862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77118623..77628815hg38UCSC Ensembl
Innerchr17:75114705..75624897hg19UCSC Ensembl
Innerchr17:72626300..73136492hg18UCSC Ensembl
Cytoband17q25.2
Allele length
AssemblyAllele length
hg38510193
hg19510193
hg18510193
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3284n100
Supporting Variantsnssv3567812
Samples
Known GenesLOC100507351, MIR4316, SEC14L1, SEPT9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061331
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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