A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977281



Internal ID19226357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12005085..12010285hg38UCSC Ensembl
Outerchr19:12115900..12121100hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg385201
hg195201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139695
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977281
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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