A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1770542



Internal ID17779238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:73099277..73107706hg38UCSC Ensembl
Innerchr1:73564960..73573389hg19UCSC Ensembl
Innerchr1:73337548..73345977hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg388430
hg198430
hg188430
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945998
Supporting Variants
SamplesHGDP00665
Known Genes
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)nssv1770542
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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