A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007714



Internal ID18750245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47042897..47290080hg38UCSC Ensembl
Innerchr3:47084387..47331570hg19UCSC Ensembl
Innerchr3:47059391..47306574hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg38247184
hg19247184
hg18247184
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3595247
Samples
Known GenesKIF9, KIF9-AS1, KLHL18, SETD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007714
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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