A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2667113



Internal ID17839358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:94825634..94828570hg38UCSC Ensembl
Innerchr2:95491379..95494315hg19UCSC Ensembl
Innerchr2:94855106..94858042hg18UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg382937
hg192937
hg182937
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv961613
Supporting Variants
SamplesHGDP00998
Known GenesANKRD20A8P
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2667113
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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