A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3996331



Internal ID18840747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:110067907..110068654hg38UCSC Ensembl
Outerchr9:112830187..112830934hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38748
hg19748
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150859
Supporting Variants
SamplesKWB1
Known GenesAKAP2, PALM2-AKAP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3996331
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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