A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024500



Internal ID19113717
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:162695..332639hg38UCSC Ensembl
Innerchr9:162695..332639hg19UCSC Ensembl
Innerchr9:152695..322639hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38169945
hg19169945
hg18169945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7350n100
Supporting Variantsnssv3758061
Samples
Known GenesC9orf66, CBWD1, DOCK8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1024500
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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