A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144412



Internal ID19267099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29767558..29769763hg38UCSC Ensembl
Outerchr22:30163547..30165752hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382206
hg192206
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2453n106
Supporting Variantsnssv3995194
SamplesKWS1
Known GenesUQCR10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144412
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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