A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057656



Internal ID18800187
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 StatusM
Merged Variants
Supporting Variantsnssv3593470
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)nsv1057656
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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