A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3595259



Internal ID18546854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:51928065..52065425hg38UCSC Ensembl
Innerchr3:51962081..52099441hg19UCSC Ensembl
Innerchr3:51937121..52074481hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38137361
hg19137361
hg18137361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1003453
Supporting Variants
Samples
Known GenesABHD14A, ABHD14A-ACY1, ABHD14B, ACY1, DUSP7, GPR62, LINC00696, PARP3, PCBP4, RPL29, RRP9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3595259
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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