A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988836



Internal ID19232830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:117968533..117968879hg38UCSC Ensembl
Outerchr8:118980772..118981118hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135278
Supporting Variants
SamplesKWS2
Known GenesEXT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988836
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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