A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041318



Internal ID18783849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100925527..100992723hg38UCSC Ensembl
Innerchr14:101391864..101459060hg19UCSC Ensembl
Innerchr14:100461617..100528813hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3867197
hg1967197
hg1867197
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1975n100
Supporting Variantsnssv3533522, nssv3533521, nssv3533520
Samples
Known GenesSNORD113-2, SNORD113-3, SNORD113-4, SNORD113-5, SNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, SNORD114-16, SNORD114-17, SNORD114-18, SNORD114-19, SNORD114-2, SNORD114-20, SNORD114-21, SNORD114-22, SNORD114-23, SNORD114-24, SNORD114-25, SNORD114-26, SNORD114-27, SNORD114-28, SNORD114-29, SNORD114-3, SNORD114-30, 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)nsv1041318
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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