A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987148



Internal ID19222932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:67911068..67916568hg38UCSC Ensembl
Outerchr13:68485200..68490700hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg385501
hg195501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132374
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987148
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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