A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1114531



Internal ID18922550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:56912916..56912984hg38UCSC Ensembl
Outerchr4:57779082..57779150hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974441
SamplesKWS2
Known GenesREST
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1114531
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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