A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998350



Internal ID16944616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:61696883..61721682hg38UCSC Ensembl
Outerchr14:62163601..62188400hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3824800
hg1924800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952848
Supporting Variants
SamplesBILGI_BIOE
Known GenesHIF1A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998350
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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