A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2477671



Internal ID17739047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:127295742..127296894hg38UCSC Ensembl
Innerchr7:126935796..126936948hg19UCSC Ensembl
Innerchr7:126723032..126724184hg18UCSC Ensembl
Cytoband7q31.33
Allele length
AssemblyAllele length
hg381153
hg191153
hg181153
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970576
Supporting Variants
SamplesHGDP00456
Known Genes
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)nssv2477671
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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