A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123739



Internal ID18936195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1672161..1672216hg38UCSC Ensembl
Outerchr4:1673888..1673943hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3973512
SamplesKWS2
Known GenesFAM53A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123739
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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