A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969108



Internal ID19226903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46536503..46537603hg38UCSC Ensembl
Outerchr22:46932400..46933500hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381101
hg191101
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1133543
Supporting Variants
SamplesKWS2
Known GenesCELSR1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969108
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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