A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961448



Internal ID19208243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:218675122..218675199hg38UCSC Ensembl
Outerchr1:218848464..218848541hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1111014
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961448
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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