A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3967683



Internal ID19226219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:164558863..164560063hg38UCSC Ensembl
Outerchr1:164528100..164529300hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1130979
Supporting Variants
SamplesKWS2
Known GenesPBX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3967683
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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