A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2571464



Internal ID17812107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:467031..476175hg38UCSC Ensembl
Innerchr1:343162..352306hg19UCSC Ensembl
Innerchr1:333025..342169hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg389145
hg199145
hg189145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945525
Supporting Variants
SamplesHGDP00927
Known Genes
MethodSequencing
Analysislineage specific fixed expansions
PlatformNot reported
Commentslineage specific expansions - expansion_Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2571464
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer