A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1916927



Internal ID17762531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:13812128..13812736hg38UCSC Ensembl
Innerchr12:13965062..13965670hg19UCSC Ensembl
Innerchr12:13856329..13856937hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38609
hg19609
hg18609
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983288
Supporting Variants
SamplesHGDP00542
Known GenesGRIN2B
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)nssv1916927
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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