A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1144084



Internal ID18930033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:122826345..122826945hg38UCSC Ensembl
Outerchr4:123747500..123748100hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994806
SamplesKWS1
Known GenesFGF2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1144084
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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