A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3165n100



Internal ID22789252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41257146..41284967hg38UCSC Ensembl
chr17:39413398..39441219hg19UCSC Ensembl
chr17:36666924..36694745hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3827822
hg1927822
hg1827822
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1066587, nsv1056139
Samples
Known GenesKRTAP9-6, KRTAP9-7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3165n100
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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