A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3987764



Internal ID19208532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:10767645..10767721hg38UCSC Ensembl
Outerchr8:10625155..10625231hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3877
hg1977
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132970
Supporting Variants
SamplesKWS1
Known GenesPINX1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3987764
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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