A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1948261



Internal ID17761021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:128942367..128944298hg38UCSC Ensembl
Innerchr12:129426912..129428843hg19UCSC Ensembl
Innerchr12:127992865..127994796hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg381932
hg191932
hg181932
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973134
Supporting Variants
SamplesHGDP00542
Known GenesGLT1D1
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)nssv1948261
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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