A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1072201



Internal ID19321965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21416810..21435211hg38UCSC Ensembl
chr22:21771099..21789500hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3818402
hg1918402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765084
SamplesKWP1
Known GenesHIC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1072201
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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