A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987658



Internal ID19216955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:165081448..165083848hg38UCSC Ensembl
Outerchr4:166002600..166005000hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg382401
hg192401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132865
Supporting Variants
SamplesKWS1
Known GenesTMEM192
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987658
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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