A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2207892



Internal ID17472840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:151633514..151634014hg38UCSC Ensembl
Innerchr2:152490028..152490528hg19UCSC Ensembl
Innerchr2:152198274..152198774hg18UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg38501
hg19501
hg18501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979135
Supporting Variants
SamplesHGDP00927
Known GenesNEB
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2207892
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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