A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1935143



Internal ID17778798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63871726..63874571hg38UCSC Ensembl
Innerchr12:64265506..64268351hg19UCSC Ensembl
Innerchr12:62551773..62554618hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg382846
hg192846
hg182846
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975506
Supporting Variants
SamplesHGDP00665
Known GenesSRGAP1
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)nssv1935143
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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