A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066813



Internal ID18809344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:275103..853554hg38UCSC Ensembl
Innerchr17:124894..756794hg19UCSC Ensembl
Innerchr17:124894..703544hg18UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38578452
hg19631901
hg18578651
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3071n100
Supporting Variantsnssv3560038
Samples
Known GenesC17orf97, DBIL5P, FAM101B, FAM57A, GEMIN4, GLOD4, LOC100506388, NXN, RNMTL1, RPH3AL, VPS53
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066813
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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