A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998377



Internal ID16944643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:77274658..77279757hg38UCSC Ensembl
Outerchr14:77741001..77746100hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg385100
hg195100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952872
Supporting Variants
SamplesBILGI_BIOE
Known GenesPOMT2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998377
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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