A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2341876



Internal ID17804974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:179718062..179730860hg38UCSC Ensembl
Innerchr4:180639215..180652013hg19UCSC Ensembl
Innerchr4:180876209..180889007hg18UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg3812799
hg1912799
hg1812799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv966345
Supporting Variants
SamplesHGDP00778
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)nssv2341876
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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