A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702537



Internal ID15092503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56878991..56892881hg38UCSC Ensembl
Innerchr16:56912903..56926793hg19UCSC Ensembl
Innerchr16:55470404..55484294hg18UCSC Ensembl
Innerchr16:55470404..55484294hg17UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg3813891
hg1913891
hg1813891
hg1713891
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv526264
Supporting Variants
Samples
Known GenesSLC12A3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702537
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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