A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998442



Internal ID16944708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105363764..105510163hg38UCSC Ensembl
Outerchr14:105830101..105976500hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38146400
hg19146400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952282
Supporting Variants
SamplesBILGI_BIOE
Known GenesC14orf80, CRIP1, CRIP2, MTA1, PACS2, TEX22
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998442
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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