A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1758165



Internal ID17745114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:39013501..39015693hg38UCSC Ensembl
Innerchr1:39479173..39481365hg19UCSC Ensembl
Innerchr1:39251760..39253952hg18UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg382193
hg192193
hg182193
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945888
Supporting Variants
SamplesHGDP00521
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)nssv1758165
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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