A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3568601



Internal ID18520196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:47339172..47441317hg38UCSC Ensembl
Innerchr17:45416538..45518683hg19UCSC Ensembl
Innerchr17:42771537..42873682hg18UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg38102146
hg19102146
hg18102146
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1062096
Supporting Variants
Samples
Known GenesEFCAB13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3568601
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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