A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114267



Internal ID19250995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:107083323..107089065hg38UCSC Ensembl
Outerchr7:106723768..106729510hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg385743
hg195743
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3640n106
Supporting Variantsnssv3973778
SamplesKWS1
Known GenesPRKAR2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114267
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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