A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130789



Internal ID19260731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:44813348..44813435hg38UCSC Ensembl
Outerchr22:45209228..45209315hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3888
hg1988
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2466n106
Supporting Variantsnssv3967109
SamplesKWS2
Known GenesARHGAP8, PRR5-ARHGAP8
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130789
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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