A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2619061



Internal ID17526858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31104100..31106526hg38UCSC Ensembl
Innerchr12:31257034..31259460hg19UCSC Ensembl
Innerchr12:31148301..31150727hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382427
hg192427
hg182427
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983381
Supporting Variants
SamplesHGDP01284
Known GenesDDX11
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2619061
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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