A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1918242



Internal ID17847654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:12153793..12157731hg38UCSC Ensembl
Innerchr12:12306727..12310665hg19UCSC Ensembl
Innerchr12:12197994..12201932hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg383939
hg193939
hg183939
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv975452
Supporting Variants
SamplesHGDP01029
Known GenesLRP6
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)nssv1918242
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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