A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3000376



Internal ID17293328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:11396525..11402124hg38UCSC Ensembl
OuterchrY:13552201..13557800hg19UCSC Ensembl
CytobandYq11.21
Allele length
AssemblyAllele length
hg385600
hg195600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv953088
Supporting Variants
SamplesBILGI_BIOE
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3000376
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer