A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1030075



Internal ID19119294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:203310..496213hg38UCSC Ensembl
Innerchr9:203310..496213hg19UCSC Ensembl
Innerchr9:193310..486213hg18UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg38292904
hg19292904
hg18292904
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7351n100
Supporting Variantsnssv3758065
Samples
Known GenesC9orf66, DOCK8, KANK1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1030075
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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