A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130790



Internal ID19271996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45349418..45350362hg38UCSC Ensembl
Outerchr22:45745299..45746243hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2468n106
Supporting Variantsnssv3967110
SamplesKWS2
Known GenesSMC1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130790
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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