A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125691



Internal ID18909598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:68518611..68518666hg38UCSC Ensembl
Outerchr2:68745743..68745798hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983898
SamplesKWS2
Known GenesAPLF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125691
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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