A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2599071



Internal ID17399283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:148577301..149056658hg38UCSC Ensembl
Innerchr1:148314056..148314885hg19UCSC Ensembl
Innerchr1:146680680..146681509hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38479358
hg19830
hg18830
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv946952
Supporting Variants
SamplesHGDP00521
Known GenesLOC101929780, NBPF10, NBPF14, NBPF8, NBPF9
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)nssv2599071
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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