A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111276



Internal ID19282870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:75487814..75487870hg38UCSC Ensembl
Outerchr4:76413024..76413080hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962574
SamplesKWS1
Known GenesRCHY1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111276
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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