A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2679843



Internal ID17806684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:13975292..13977755hg38UCSC Ensembl
Innerchr21:15347613..15350076hg19UCSC Ensembl
Innerchr21:14269484..14271947hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg382464
hg192464
hg182464
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962695
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)nssv2679843
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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