A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112397



Internal ID18902108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:94860909..94861058hg38UCSC Ensembl
Outerchr4:95782060..95782209hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966477
SamplesKWS2
Known GenesBMPR1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112397
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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