A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998400



Internal ID16944666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100522664..100689963hg38UCSC Ensembl
Outerchr14:100989001..101156300hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38167300
hg19167300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952240
Supporting Variants
SamplesBILGI_BIOE
Known GenesBEGAIN, LINC00523, WDR25
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998400
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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