A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2178630



Internal ID17487275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73670678..73704946hg38UCSC Ensembl
Innerchr2:73897805..73932073hg19UCSC Ensembl
Innerchr2:73751313..73785581hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3834269
hg1934269
hg1834269
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv979022
Supporting Variants
SamplesHGDP00998
Known GenesALMS1P, NAT8B
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)nssv2178630
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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