A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077401



Internal ID19319423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:42627889..42637690hg38UCSC Ensembl
chr21:44047999..44057800hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg389802
hg199802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763555
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077401
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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