A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064138



Internal ID18806669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:5187013..5296109hg38UCSC Ensembl
Innerchr17:5090308..5199404hg19UCSC Ensembl
Innerchr17:5031032..5140128hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg38109097
hg19109097
hg18109097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3089n100
Supporting Variantsnssv3560132
Samples
Known GenesLOC100130950, RABEP1, SCIMP, ZNF594
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064138
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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