A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988686



Internal ID19232169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42796871..42799324hg38UCSC Ensembl
Outerchr3:42838363..42840816hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382454
hg192454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135134
Supporting Variants
SamplesKWS2
Known GenesHIGD1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988686
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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