A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130635



Internal ID19261828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196799084..196923949hg38UCSC Ensembl
Outerchr1:196768214..196893079hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124866
hg19124866
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966948
SamplesKWS2
Known GenesCFHR1, CFHR4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130635
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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