A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046601



Internal ID18789132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100918288..100966673hg38UCSC Ensembl
Innerchr14:101384625..101433010hg19UCSC Ensembl
Innerchr14:100454378..100502763hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3848386
hg1948386
hg1848386
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1971n100
Supporting Variantsnssv3533511
Samples
Known GenesSNORD113-1, SNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-2, SNORD114-3, SNORD114-4, SNORD114-5, SNORD114-6, SNORD114-7, SNORD114-8, SNORD114-9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046601
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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