A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003453



Internal ID18745984
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 StatusM
Merged Variants
Supporting Variantsnssv3595259
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)nsv1003453
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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