A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518648



Internal ID15099255
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28826194..29032129hg38UCSC Ensembl
Innerchr16:28837515..29043450hg19UCSC Ensembl
Innerchr16:28745016..28950951hg18UCSC Ensembl
Innerchr16:28745016..28950951hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38205936
hg19205936
hg18205936
hg17205936
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696097
Samples
Known GenesATP2A1, ATXN2L, CD19, LAT, LOC100289092, MIR4517, MIR4721, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518648
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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