A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960500



Internal ID19214361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:16506105..16517005hg38UCSC Ensembl
Outerchr1:16832600..16843500hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3810901
hg1910901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128589
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960500
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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