A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2451206



Internal ID17439535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57155442..57178541hg38UCSC Ensembl
Innerchr7:57223149..57246248hg19UCSC Ensembl
Innerchr7:57227091..57250190hg18UCSC Ensembl
Cytoband7p11.2
Allele length
AssemblyAllele length
hg3823100
hg1923100
hg1823100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv981484
Supporting Variants
SamplesHGDP00665
Known GenesGUSBP10
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)nssv2451206
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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