A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132277



Internal ID19269531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:5669640..5675940hg38UCSC Ensembl
Outerchr1:5729700..5736000hg19UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg386301
hg196301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv25n106
Supporting Variantsnssv3987044
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132277
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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