A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049338



Internal ID18791869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20888085..20940785hg38UCSC Ensembl
Innerchr14:21356244..21408944hg19UCSC Ensembl
Innerchr14:20426084..20478784hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3852701
hg1952701
hg1852701
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1798n100
Supporting Variantsnssv3530827, nssv3530826, nssv3530830, nssv3530829, nssv3530824, nssv3530831, nssv3530832, nssv3530828, nssv3530825
Samples
Known GenesECRP, RNASE3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049338
Frequency
Sample Size29084
Observed Gain1
Observed Loss8
Observed Complex0
Frequencyn/a


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