A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127726



Internal ID18903774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:45744441..45744500hg38UCSC Ensembl
Outerchr2:45971580..45971639hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3956267
SamplesKWS1
Known GenesPRKCE
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127726
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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