A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139070



Internal ID19250725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44154939..44155038hg38UCSC Ensembl
Outerchr22:44550819..44550918hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986151, nssv3991696
SamplesKWS2, KWS1
Known GenesPARVB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139070
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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