A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127733



Internal ID19272557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:71223168..71223235hg38UCSC Ensembl
Outerchr2:71450298..71450365hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956280
SamplesKWS1
Known GenesPAIP2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127733
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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