A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1132287



Internal ID19286867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53555627..53557027hg38UCSC Ensembl
Outerchr1:54021300..54022700hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3987056
SamplesKWS1
Known GenesGLIS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1132287
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