A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517513



Internal ID8411788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:74709838..74778778hg38UCSC Ensembl
Innerchr16:74743736..74812676hg19UCSC Ensembl
Innerchr16:73301237..73370177hg18UCSC Ensembl
Innerchr16:73301237..73370177hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3868941
hg1968941
hg1868941
hg1768941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683889, nssv665558, nssv669555, nssv652240, nssv652381, nssv696370, nssv688466, nssv667941
Samples
Known GenesFA2H
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517513
Frequency
Sample Size2026
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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