A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072020



Internal ID19320889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118222623..118226424hg38UCSC Ensembl
chr2:118980199..118984000hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg383802
hg193802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3768847
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072020
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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