A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123996



Internal ID19278425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150366628..150366954hg38UCSC Ensembl
Outerchr5:149746191..149746517hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3974177
SamplesKWS2
Known GenesTCOF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123996
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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