A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1913693



Internal ID17433070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8940856..8941356hg38UCSC Ensembl
Innerchr12:9093452..9093952hg19UCSC Ensembl
Innerchr12:8984719..8985219hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv973019
Supporting Variants
SamplesHGDP00665
Known GenesM6PR, PHC1
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1913693
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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