A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1764151



Internal ID17844904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21907079..21910012hg38UCSC Ensembl
Innerchr1:22233572..22236505hg19UCSC Ensembl
Innerchr1:22106159..22109092hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg382934
hg192934
hg182934
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945815
Supporting Variants
SamplesHGDP01029
Known GenesHSPG2
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Pab-Ppy-Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1764151
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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