A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv574377



Internal ID16361786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:13548048..14439233hg38UCSC Ensembl
Innerchr17:13451365..14342550hg19UCSC Ensembl
Innerchr17:13392090..14283275hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38891186
hg19891186
hg18891186
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv866929
Samples
Known GenesCDRT15, CDRT15P1, COX10, COX10-AS1, HS3ST3A1, HS3ST3B1, MGC12916
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv574377
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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