A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077357



Internal ID19321045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91443456..91476922hg38UCSC Ensembl
chr2:91635999..91669300hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg3833467
hg1933302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767513
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077357
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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