A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114477



Internal ID18919506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:64621..67995hg38UCSC Ensembl
Outerchr4:64513..67887hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg383375
hg193375
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974382, nssv3956675
SamplesKWS2, KWS1
Known GenesZNF595, ZNF718
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114477
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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