A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700400



Internal ID15090366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:99335623..99415089hg38UCSC Ensembl
Innerchr2:99952086..100031551hg19UCSC Ensembl
Innerchr2:99318518..99397983hg18UCSC Ensembl
Innerchr2:99410604..99490069hg17UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3879467
hg1979466
hg1879466
hg1779466
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524466
Supporting Variants
Samples
Known GenesEIF5B, REV1, TXNDC9
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700400
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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