A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2575709



Internal ID17880051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:8870395..8874338hg38UCSC Ensembl
Innerchr1:143216057..143220004hg19UCSC Ensembl
Innerchr1:142057580..142061527hg18UCSC Ensembl
Cytoband1q12
Allele length
AssemblyAllele length
hg383944
hg193948
hg183948
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945662
Supporting Variants
SamplesHGDP01307
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)nssv2575709
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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