A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040775



Internal ID18783306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50676760..50853094hg38UCSC Ensembl
Innerchr14:51143478..51319812hg19UCSC Ensembl
Innerchr14:50213228..50389562hg18UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38176335
hg19176335
hg18176335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531019
Samples
Known GenesNIN
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040775
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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