A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139109



Internal ID18921155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:42789516..42789567hg38UCSC Ensembl
Outerchr3:42831008..42831059hg19UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3852
hg1952
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986197, nssv3991731
SamplesKWS2, KWS1
Known GenesHIGD1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139109
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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