A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1770732



Internal ID17746262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:58047578..58056540hg38UCSC Ensembl
Innerchr1:58513250..58522212hg19UCSC Ensembl
Innerchr1:58285838..58294800hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg388963
hg198963
hg188963
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945969
Supporting Variants
SamplesHGDP00521
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)nssv1770732
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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