A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1121190



Internal ID18925503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:14621517..14623314hg38UCSC Ensembl
Outerchr19:14732329..14734126hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381798
hg191798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1718n106
Supporting Variantsnssv3989086, nssv3955421
SamplesKWS2, KWS1
Known GenesEMR3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1121190
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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