A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000127



Internal ID19089344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:234250159..234301649hg38UCSC Ensembl
Innerchr2:235158803..235210293hg19UCSC Ensembl
Innerchr2:234823542..234875032hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3851491
hg1951491
hg1851491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3586943
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)nsv1000127
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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