A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1146838



Internal ID19202179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11243323..11270324hg38UCSC Ensembl
OuterchrY:13398999..13426000hg19UCSC Ensembl
CytobandYq11.1
Allele length
AssemblyAllele length
hg3827002
hg1927002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3998202
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1146838
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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