A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039975



Internal ID19129194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35432355..35536457hg38UCSC Ensembl
Innerchr14:35901561..36005663hg19UCSC Ensembl
Innerchr14:34971312..35075414hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38104103
hg19104103
hg18104103
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712281
Samples
Known GenesINSM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039975
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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