A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4001478



Internal ID19190071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:23523452..23557753hg38UCSC Ensembl
OuterchrY:25669599..25703900hg19UCSC Ensembl
CytobandYq11.223
Allele length
AssemblyAllele length
hg3834302
hg1934302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1147967
Supporting Variants
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4001478
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