A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1066382



Internal ID18808913
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89537178..89661187hg38UCSC Ensembl
Innerchr16:89603586..89727595hg19UCSC Ensembl
Innerchr16:88131087..88255096hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg38124010
hg19124010
hg18124010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560006
Samples
Known GenesCHMP1A, CPNE7, DPEP1, RPL13, SNORD68, SPATA33, SPG7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1066382
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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