A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072042



Internal ID19321662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:168538964..168539276hg38UCSC Ensembl
chr2:169395474..169395786hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772970
SamplesKWP1
Known GenesCERS6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072042
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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