A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2999254



Internal ID16945520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:38411783..38418282hg38UCSC Ensembl
Outerchr8:38269301..38275800hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv951128
Supporting Variants
SamplesBILGI_BIOE
Known GenesFGFR1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2999254
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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