A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114541



Internal ID19286082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:67696435..67696520hg38UCSC Ensembl
Outerchr4:68562153..68562238hg19UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974449
SamplesKWS2
Known GenesUBA6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114541
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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