A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002380



Internal ID18744912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:29840976..30055962hg38UCSC Ensembl
Innerchr2:30063842..30278828hg19UCSC Ensembl
Innerchr2:29917346..30132332hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg38214987
hg19214987
hg18214987
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579136
Samples
Known GenesALK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002380
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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