A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1761776



Internal ID17745450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:42888569..42892272hg38UCSC Ensembl
Innerchr1:43354240..43357943hg19UCSC Ensembl
Innerchr1:43126827..43130530hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg383704
hg193704
hg183704
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945909
Supporting Variants
SamplesHGDP00521
Known GenesLOC339539
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)nssv1761776
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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