A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701160



Internal ID15437812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:47261751..47277777hg38UCSC Ensembl
Innerchr14:47730954..47746980hg19UCSC Ensembl
Innerchr14:46800704..46816730hg18UCSC Ensembl
Innerchr14:46800704..46816730hg17UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg3816027
hg1916027
hg1816027
hg1716027
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525101
Supporting Variants
Samples
Known GenesMDGA2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701160
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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