A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002214



Internal ID19091431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241295639..241936488hg38UCSC Ensembl
Innerchr1:241458939..242099790hg19UCSC Ensembl
Innerchr1:239525562..240166413hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38640850
hg19640852
hg18640852
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3484630
Samples
Known GenesCHML, EXO1, FH, KMO, OPN3, RGS7, WDR64
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002214
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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