A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2484832



Internal ID17429669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:149491661..149495228hg38UCSC Ensembl
Innerchr7:149188752..149192319hg19UCSC Ensembl
Innerchr7:148819685..148823252hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383568
hg193568
hg183568
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970602
Supporting Variants
SamplesHGDP00542
Known GenesZNF746
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)nssv2484832
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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