A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976434



Internal ID19238839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:248938701..248946401hg38UCSC Ensembl
Outerchr1:249232900..249240600hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg387701
hg197701
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115383
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976434
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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