A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064320



Internal ID18806851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:987971..1330752hg38UCSC Ensembl
Innerchr17:891211..1234046hg19UCSC Ensembl
Innerchr17:837961..1180796hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38342782
hg19342836
hg18342836
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3080n100
Supporting Variantsnssv3560065
Samples
Known GenesABR, BHLHA9, MIR3183, TIMM22, TUSC5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064320
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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