A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979518



Internal ID19225628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207609699..207612068hg38UCSC Ensembl
Outerchr2:208474423..208476792hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382370
hg192370
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1117323
Supporting Variants
SamplesKWS1
Known GenesMETTL21A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979518
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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