A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133576



Internal ID18901389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3765773..3766673hg38UCSC Ensembl
Outerchr4:3767500..3768400hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994787, nssv3990003
SamplesKWS1, KWS2
Known GenesADRA2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133576
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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