A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2576484



Internal ID17742417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:8865802..8867034hg38UCSC Ensembl
Innerchr1:143223360..143224591hg19UCSC Ensembl
Innerchr1:142064883..142066114hg18UCSC Ensembl
Cytoband1q12
Allele length
AssemblyAllele length
hg381233
hg191232
hg181232
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945665
Supporting Variants
SamplesHGDP00456
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2576484
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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