A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119699



Internal ID19278844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:40214969..40215258hg38UCSC Ensembl
Outerchr21:41586896..41587185hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2390n106
Supporting Variantsnssv3982153
SamplesKWS1
Known GenesDSCAM
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119699
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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