A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2569385



Internal ID17880221
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:476675..478979hg38UCSC Ensembl
Innerchr1:340358..342662hg19UCSC Ensembl
Innerchr1:330221..332525hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382305
hg192305
hg182305
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945521
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)nssv2569385
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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