A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148692



Internal ID19195653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:18140113..18152014hg38UCSC Ensembl
OuterchrY:20301999..20313900hg19UCSC Ensembl
CytobandYq11.222
Allele length
AssemblyAllele length
hg3811902
hg1911902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997479
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148692
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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