A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3723252



Internal ID18674847
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:3007700..3106590hg38UCSC Ensembl
Innerchr19:3007698..3106588hg19UCSC Ensembl
Innerchr19:2958698..3057588hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3898891
hg1998891
hg1898891
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061420
Supporting Variants
Samples
Known GenesAES, GNA11, TLE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3723252
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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