A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062793



Internal ID19152012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:35617713..35649666hg38UCSC Ensembl
Innerchr17:33944732..33976685hg19UCSC Ensembl
Innerchr17:30968845..31000798hg18UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3831954
hg1931954
hg1831954
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3561115
Samples
Known GenesAP2B1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062793
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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