A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2471370



Internal ID17850917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:99969675..99984391hg38UCSC Ensembl
Innerchr7:99567298..99582014hg19UCSC Ensembl
Innerchr7:99405234..99419950hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3814717
hg1914717
hg1814717
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970912
Supporting Variants
SamplesHGDP01029
Known GenesAZGP1, AZGP1P1
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)nssv2471370
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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