A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044763



Internal ID19133982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:24018922..24044696hg38UCSC Ensembl
Innerchr14:24488131..24513905hg19UCSC Ensembl
Innerchr14:23557971..23583745hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3825775
hg1925775
hg1825775
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1850n100
Supporting Variantsnssv3528511, nssv3712263, nssv3528504, nssv3528509, nssv3528499, nssv3528500, nssv3712264, nssv3528505, nssv3528502, nssv3712262, nssv3528510, nssv3528506, nssv3528503, nssv3528508, nssv3528501, nssv3528507, nssv3528512
Samples
Known GenesDHRS4L1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044763
Frequency
Sample Size11257
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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