A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072026



Internal ID19321187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127979555..127979727hg38UCSC Ensembl
chr2:128737129..128737301hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768939
SamplesKWP1
Known GenesSAP130
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072026
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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