A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112742



Internal ID18935944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3359302..3360302hg38UCSC Ensembl
Outerchr19:3359300..3360300hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3967235
SamplesKWS2
Known GenesNFIC
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112742
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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