A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2436880



Internal ID17492498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:23206475..23208238hg38UCSC Ensembl
Innerchr7:23246094..23247857hg19UCSC Ensembl
Innerchr7:23212619..23214382hg18UCSC Ensembl
Cytoband7p15.3
Allele length
AssemblyAllele length
hg381764
hg191764
hg181764
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966762
Supporting Variants
SamplesHGDP00998
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)nssv2436880
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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