A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3959389



Internal ID19221154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:261349..297849hg38UCSC Ensembl
Outerchr1:231100..267600hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3836501
hg1936501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110124
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3959389
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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