A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017596



Internal ID18760130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97676395..97816158hg38UCSC Ensembl
Innerchr8:98688623..98828386hg19UCSC Ensembl
Innerchr8:98757799..98897562hg18UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38139764
hg19139764
hg18139764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689738
Samples
Known GenesLAPTM4B, MTDH
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017596
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer