A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978330



Internal ID18882190
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69477584..69482984hg38UCSC Ensembl
Outerchr9:72092500..72097900hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg385401
hg195401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139994
Supporting Variants
SamplesKWS2
Known GenesAPBA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978330
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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