A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992118



Internal ID19240589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:20016898..20016961hg38UCSC Ensembl
Outerchr6:20017129..20017192hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124041
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992118
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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