A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130925



Internal ID18921687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:155733561..155736439hg38UCSC Ensembl
Outerchr4:156654713..156657591hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg382879
hg192879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966600, nssv3980291
SamplesKWS1, KWS2
Known GenesGUCY1A3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130925
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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