A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521596



Internal ID15448889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75432798..75452750hg38UCSC Ensembl
Innerchr16:75466696..75486648hg19UCSC Ensembl
Innerchr16:74024197..74044149hg18UCSC Ensembl
Innerchr16:74024197..74044149hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3819953
hg1919953
hg1819953
hg1719953
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv698213
Samples
Known GenesCFDP1, TMEM170A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521596
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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