A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960650



Internal ID19204866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:29479979..29490679hg38UCSC Ensembl
Outerchr16:29491300..29502000hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3810701
hg1910701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128737
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960650
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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