A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044941



Internal ID18787472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113369130..113433835hg38UCSC Ensembl
Innerchr13:114023445..114088150hg19UCSC Ensembl
Innerchr13:113071446..113136151hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3864706
hg1964706
hg1864706
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3525622, nssv3525621
Samples
Known GenesADPRHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044941
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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