A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv704473



Internal ID15441125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:55742573..55744843hg38UCSC Ensembl
Innerchr16:55776485..55778755hg19UCSC Ensembl
Innerchr16:54333986..54336256hg18UCSC Ensembl
Innerchr16:54333986..54336256hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg382271
hg192271
hg182271
hg172271
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv527963
Supporting Variants
Samples
Known GenesCES1P2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv704473
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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