A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3970239



Internal ID19232654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:163166265..163166321hg38UCSC Ensembl
Outerchr1:163136055..163136111hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137820
Supporting Variants
SamplesKWS2
Known GenesRGS5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3970239
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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