A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1111544



Internal ID18926369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14621545..14623322hg38UCSC Ensembl
Outerchr19:14732357..14734134hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381778
hg191778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1718n106
Supporting Variantsnssv3963683
SamplesKWS2
Known GenesEMR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1111544
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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