A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129117



Internal ID19275427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:10246891..10255291hg38UCSC Ensembl
OuterchrY:10084500..10092900hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg388401
hg198401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4344n106
Supporting Variantsnssv3961791
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129117
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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