A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132148



Internal ID18935874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:53748050..53748114hg38UCSC Ensembl
Outerchr8:54660610..54660674hg19UCSC Ensembl
Cytoband8q11.23
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986843
SamplesKWS1
Known GenesATP6V1H
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132148
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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