A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048674



Internal ID18791205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:99989954..100275977hg38UCSC Ensembl
Innerchr9:102752236..103038259hg19UCSC Ensembl
Innerchr9:101792057..102078080hg18UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38286024
hg19286024
hg18286024
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3697575
Samples
Known GenesERP44, INVS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048674
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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