A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119207



Internal ID19264362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:116816537..116820137hg38UCSC Ensembl
Outerchr6:117137700..117141300hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg383601
hg193601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3959641
SamplesKWS1
Known GenesGPRC6A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119207
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