A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2467932



Internal ID17885823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:79125166..79126361hg38UCSC Ensembl
Innerchr7:78754482..78755677hg19UCSC Ensembl
Innerchr7:78592418..78593613hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg381196
hg191196
hg181196
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970901
Supporting Variants
SamplesHGDP01307
Known GenesMAGI2
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)nssv2467932
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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