A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517384



Internal ID15444677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:44591414..44781215hg38UCSC Ensembl
Innerchr14:45060617..45250418hg19UCSC Ensembl
Innerchr14:44130367..44320168hg18UCSC Ensembl
Innerchr14:44130367..44320168hg17UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38189802
hg19189802
hg18189802
hg17189802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv683397, nssv702630, nssv693431, nssv655469, nssv660174, nssv666920, nssv674528, nssv681906, nssv671146, nssv651867, nssv686927, nssv705941, nssv668077, nssv669172
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517384
Frequency
Sample Size2026
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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