A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2226272



Internal ID17860128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:240684629..240703655hg38UCSC Ensembl
Innerchr2:241624046..241643072hg19UCSC Ensembl
Innerchr2:241272719..241291745hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3819027
hg1919027
hg1819027
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv978972
Supporting Variants
SamplesHGDP01284
Known GenesAQP12A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2226272
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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