A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989790



Internal ID18863303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:174225897..174226217hg38UCSC Ensembl
Outerchr2:175090625..175090945hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136180
Supporting Variants
SamplesKWS1
Known GenesOLA1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989790
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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