A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv705340



Internal ID15441992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:97948585..98009781hg38UCSC Ensembl
Innerchr8:98960813..99022009hg19UCSC Ensembl
Innerchr8:99029989..99091185hg18UCSC Ensembl
Innerchr8:99029989..99091185hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3861197
hg1961197
hg1861197
hg1761197
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv528695
Supporting Variants
Samples
Known GenesMATN2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv705340
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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