A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3593470



Internal ID18545065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:50478783..50595520hg38UCSC Ensembl
Innerchr22:50917212..51033949hg19UCSC Ensembl
Innerchr22:49264078..49380815hg18UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38116738
hg19116738
hg18116738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1057656
Supporting Variants
Samples
Known GenesADM2, CHKB, CHKB-AS1, CHKB-CPT1B, CPT1B, KLHDC7B, LMF2, MIOX, NCAPH2, ODF3B, SCO2, SYCE3, TYMP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3593470
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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