A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987412



Internal ID18858871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:57436802..60345251hg38UCSC Ensembl
Outerchr6:57301600..57317100hg19UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg382908450
hg1915501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132626
Supporting Variants
SamplesKWS1
Known GenesPRIM2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987412
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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