A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2569331



Internal ID17868107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:481637..485248hg38UCSC Ensembl
Innerchr1:334089..337700hg19UCSC Ensembl
Innerchr1:323952..327563hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg383612
hg193612
hg183612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945520
Supporting Variants
SamplesHGDP01284
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)nssv2569331
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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