A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133784



Internal ID19247924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:19988114..19990614hg38UCSC Ensembl
OuterchrY:22150000..22152500hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg382501
hg192501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969357
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133784
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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