A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056267



Internal ID18798798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:13835722..14236763hg38UCSC Ensembl
Innerchr17:13739039..14140080hg19UCSC Ensembl
Innerchr17:13679764..14080805hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38401042
hg19401042
hg18401042
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3560359
Samples
Known GenesCDRT15, CDRT15P1, COX10, COX10-AS1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056267
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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