A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046350



Internal ID18788881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87932015..87948856hg38UCSC Ensembl
Innerchr14:88398359..88415200hg19UCSC Ensembl
Innerchr14:87468112..87484953hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3816842
hg1916842
hg1816842
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1953n100
Supporting Variantsnssv3532557
Samples
Known GenesGALC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046350
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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