A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv702134



Internal ID15092100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:56350808..56367064hg38UCSC Ensembl
Innerchr16:56384720..56400976hg19UCSC Ensembl
Innerchr16:54942221..54958477hg18UCSC Ensembl
Innerchr16:54942221..54958477hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3816257
hg1916257
hg1816257
hg1716257
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525929
Supporting Variants
Samples
Known GenesAMFR, GNAO1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv702134
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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