A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2998319



Internal ID17291271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:26596595..26598794hg38UCSC Ensembl
Outerchr14:27065801..27068000hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952820
Supporting Variants
SamplesBILGI_BIOE
Known GenesNOVA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2998319
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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