A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130276



Internal ID18909298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:212297793..212299274hg38UCSC Ensembl
Outerchr1:212471135..212472616hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg381482
hg191482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv259n106
Supporting Variantsnssv3964295, nssv3962453
SamplesKWS2, KWS1
Known GenesPPP2R5A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130276
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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