A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3768864



Internal ID18959391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202635476..202636077hg38UCSC Ensembl
chr2:203500199..203500800hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072061
Supporting Variants
SamplesKWP1
Known GenesFAM117B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3768864
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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