A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1935802



Internal ID17846380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:62755104..62756800hg38UCSC Ensembl
Innerchr12:63148884..63150580hg19UCSC Ensembl
Innerchr12:61435151..61436847hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg381697
hg191697
hg181697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975503
Supporting Variants
SamplesHGDP01029
Known GenesPPM1H
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)nssv1935802
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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