A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003693



Internal ID18746224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:149757484..149817555hg38UCSC Ensembl
Innerchr2:150613998..150674069hg19UCSC Ensembl
Innerchr2:150322244..150382315hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg3860072
hg1960072
hg1860072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582960
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1003693
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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