A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1034798



Internal ID19124019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:125167141..125229283hg38UCSC Ensembl
Innerchr8:126179383..126241525hg19UCSC Ensembl
Innerchr8:126248565..126310707hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3862143
hg1962143
hg1862143
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3691512
Samples
Known GenesNSMCE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1034798
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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