A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1769712



Internal ID17795757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:57605464..57607737hg38UCSC Ensembl
Innerchr1:58071136..58073409hg19UCSC Ensembl
Innerchr1:57843724..57845997hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg382274
hg192274
hg182274
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945968
Supporting Variants
SamplesHGDP00778
Known GenesDAB1
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)nssv1769712
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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