A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2444372



Internal ID17870065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:39758365..39799704hg38UCSC Ensembl
Innerchr7:39797964..39839303hg19UCSC Ensembl
Innerchr7:39764489..39805828hg18UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3841340
hg1941340
hg1841340
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970820
Supporting Variants
SamplesHGDP01284
Known GenesLINC00265
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)nssv2444372
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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