A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127118



Internal ID19253973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:68395099..68395155hg38UCSC Ensembl
Outerchr10:70154856..70154912hg19UCSC Ensembl
Cytoband10q21.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985473
SamplesKWS1
Known GenesRUFY2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127118
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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