A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524349



Internal ID15104956
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129856117..130120346hg38UCSC Ensembl
Innerchr8:130868363..131132592hg19UCSC Ensembl
Innerchr8:130937545..131201774hg18UCSC Ensembl
Innerchr8:130937545..131201774hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38264230
hg19264230
hg18264230
hg17264230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv700257
Samples
Known GenesASAP1, ASAP1-IT2, FAM49B, MIR5194
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524349
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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