A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047315



Internal ID18789846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:22514241..22579448hg38UCSC Ensembl
Innerchr14:22983223..23048348hg19UCSC Ensembl
Innerchr14:22053063..22118188hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3865208
hg1965126
hg1865126
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3712162
Samples
Known GenesDAD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047315
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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