A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv954857



Internal ID16957044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51932485..52056584hg38UCSC Ensembl
Outerchr3:51966501..52090600hg19UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg38124100
hg19124100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001387
SamplesBILGI_BIOE
Known GenesABHD14A, ABHD14A-ACY1, ABHD14B, ACY1, DUSP7, GPR62, PARP3, PCBP4, RPL29, RRP9
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv954857
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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