A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072962



Internal ID18976523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105744242..105745443hg38UCSC Ensembl
chr2:106360699..106361900hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg381202
hg191202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3769681
SamplesKWP1
Known GenesNCK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072962
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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