A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526509



Internal ID15107116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30328056..30643198hg38UCSC Ensembl
Innerchr8:30185572..30500715hg19UCSC Ensembl
Innerchr8:30305114..30620257hg18UCSC Ensembl
Innerchr8:30305114..30620257hg17UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38315143
hg19315144
hg18315144
hg17315144
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv702819
Samples
Known GenesGTF2E2, RBPMS, RBPMS-AS1, SMIM18
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv526509
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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