A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv658319



Internal ID15048285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:105150705..105708865hg38UCSC Ensembl
Innerchr14:105617042..106175202hg19UCSC Ensembl
Innerchr14:104688087..105246247hg18UCSC Ensembl
Innerchr14:104688087..105246247hg17UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38558161
hg19558161
hg18558161
hg17558161
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517055
Supporting Variants
Samples
Known GenesBRF1, BTBD6, C14orf80, CRIP1, CRIP2, ELK2AP, JAG2, MIR6765, MIR8071-1, MIR8071-2, MTA1, NUDT14, PACS2, TEX22, TMEM121
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv658319
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer