A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694767



Internal ID15431419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129908916..129920181hg38UCSC Ensembl
Innerchr8:130921162..130932427hg19UCSC Ensembl
Innerchr8:130990344..131001609hg18UCSC Ensembl
Innerchr8:130990344..131001609hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3811266
hg1911266
hg1811266
hg1711266
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521998
Supporting Variants
Samples
Known GenesFAM49B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694767
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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