A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2680945



Internal ID17808742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13946407..13947858hg38UCSC Ensembl
Innerchr21:15318728..15320179hg19UCSC Ensembl
Innerchr21:14240599..14242050hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg381452
hg191452
hg181452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962692
Supporting Variants
SamplesHGDP00778
Known GenesANKRD20A11P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2680945
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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