A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3986151



Internal ID19217700
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 StatusS
Merged Variantsnsv1139070
Supporting Variants
SamplesKWS1
Known GenesPARVB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3986151
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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