A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3584247



Internal ID18535842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:58511618..58790600hg38UCSC Ensembl
Innerchr20:57086674..57365655hg19UCSC Ensembl
Innerchr20:56520080..56799050hg18UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg38278983
hg19278982
hg18278971
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1063462
Supporting Variants
Samples
Known GenesAPCDD1L, APCDD1L-AS1, NPEPL1, STX16, STX16-NPEPL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3584247
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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