A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124631



Internal ID19286410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:133118696..133122596hg38UCSC Ensembl
Outerchr10:134932200..134936100hg19UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg383901
hg193901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3976685
SamplesKWS2
Known GenesGPR123
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124631
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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