A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1009882



Internal ID18752413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:182348425..183306791hg38UCSC Ensembl
Innerchr2:183213152..184171519hg19UCSC Ensembl
Innerchr2:182921397..183879764hg18UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38958367
hg19958368
hg18958368
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583126
Samples
Known GenesDNAJC10, DUSP19, FRZB, NCKAP1, NUP35, PDE1A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1009882
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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