A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043713



Internal ID18786244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:100939598..100973221hg38UCSC Ensembl
Innerchr14:101405935..101439558hg19UCSC Ensembl
Innerchr14:100475688..100509311hg18UCSC Ensembl
Cytoband14q32.31
Allele length
AssemblyAllele length
hg3833624
hg1933624
hg1833624
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3533539
Samples
Known GenesSNORD113-6, SNORD113-7, SNORD113-8, SNORD113-9, SNORD114-1, SNORD114-10, SNORD114-11, SNORD114-12, SNORD114-13, SNORD114-14, SNORD114-15, 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)nsv1043713
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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