A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1995610



Internal ID17520666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:96221559..96224948hg38UCSC Ensembl
Innerchr14:96687896..96691285hg19UCSC Ensembl
Innerchr14:95757649..95761038hg18UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg383390
hg193390
hg183390
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983853
Supporting Variants
SamplesHGDP01284
Known GenesBDKRB2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1995610
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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