A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3993568



Internal ID18883027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:41527066..41527148hg38UCSC Ensembl
Outerchr1:41992737..41992819hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1142057
Supporting Variants
SamplesKWS2
Known GenesHIVEP3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3993568
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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