A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3160n100



Internal ID22789247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41249017..41274267hg38UCSC Ensembl
chr17:39405269..39430519hg19UCSC Ensembl
chr17:36658795..36684045hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3825251
hg1925251
hg1825251
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1065553, nsv1061158
Samples
Known GenesKRTAP9-4, KRTAP9-6, KRTAP9-9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3160n100
Frequency
Sample Size11257
Observed Gain13
Observed Loss15
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer