A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1767733



Internal ID17531664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52942428..52943917hg38UCSC Ensembl
Innerchr1:53408100..53409589hg19UCSC Ensembl
Innerchr1:53180688..53182177hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381490
hg191490
hg181490
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945951
Supporting Variants
SamplesHGDP01307
Known GenesSCP2
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)nssv1767733
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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