A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960538



Internal ID19211482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:185706768..185711868hg38UCSC Ensembl
Outerchr1:185675900..185681000hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg385101
hg195101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1128627
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3960538
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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