A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2486892



Internal ID17525271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:152430439..152442324hg38UCSC Ensembl
Innerchr7:152127524..152139409hg19UCSC Ensembl
Innerchr7:151758457..151770342hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3811886
hg1911886
hg1811886
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv970976
Supporting Variants
SamplesHGDP01284
Known GenesFABP5P3, KMT2C
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2486892
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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