A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119194



Internal ID19257894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:144132597..144138397hg38UCSC Ensembl
Outerchr8:145187500..145193300hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg385801
hg195801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3982000
SamplesKWS1
Known GenesFAM203A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119194
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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