A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112736



Internal ID18930080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1789801..1790701hg38UCSC Ensembl
Outerchr19:1789800..1790700hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3994603, nssv3989880
SamplesKWS1, KWS2
Known GenesATP8B3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112736
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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