A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072071



Internal ID19320797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222617008..222617271hg38UCSC Ensembl
chr2:223481727..223481990hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38264
hg19264
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3763005
SamplesKWP1
Known GenesFARSB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072071
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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