A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1153593



Internal ID19202604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:12314572..12319573hg38UCSC Ensembl
OuterchrY:14435299..14440300hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg385002
hg195002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002245
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1153593
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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