A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130923



Internal ID19283121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:111847968..111852939hg38UCSC Ensembl
Outerchr4:112769124..112774095hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg384972
hg194972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980606, nssv3968376
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130923
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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