A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977949



Internal ID19245688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
OuterchrY:950165..1068965hg38UCSC Ensembl
OuterchrY:860900..979700hg19UCSC Ensembl
CytobandYp11.32
Allele length
AssemblyAllele length
hg38118801
hg19118801
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1125143
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977949
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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