A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977291



Internal ID18890033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43727148..43729748hg38UCSC Ensembl
Outerchr19:44231300..44233900hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139705
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977291
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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