A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1937624



Internal ID17736698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:70445044..70446918hg38UCSC Ensembl
Innerchr12:70838824..70840698hg19UCSC Ensembl
Innerchr12:69125091..69126965hg18UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg381875
hg191875
hg181875
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv973090
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv1937624
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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