A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977479



Internal ID19246665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:52539434..52543534hg38UCSC Ensembl
Outerchr4:53405600..53409700hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg384101
hg194101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115670
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977479
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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