A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1045543



Internal ID18788074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:113393156..113433835hg38UCSC Ensembl
Innerchr13:114047471..114088150hg19UCSC Ensembl
Innerchr13:113095472..113136151hg18UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3840680
hg1940680
hg1840680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1744n100
Supporting Variantsnssv3525633, nssv3525628, nssv3525625, nssv3525629, nssv3525632, nssv3525627, nssv3525624, nssv3525630, nssv3525631, nssv3525626
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)nsv1045543
Frequency
Sample Size29084
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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