A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001799



Internal ID18744330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:202908732..205615330hg38UCSC Ensembl
Innerchr2:203773455..206480054hg19UCSC Ensembl
Innerchr2:203481700..206188299hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382706599
hg192706600
hg182706600
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3729330
Samples
Known GenesABI2, CARF, CD28, CTLA4, CYP20A1, ICOS, NBEAL1, PARD3B, RAPH1, WDR12
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001799
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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