A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1763436



Internal ID17736898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:21440874..21486086hg38UCSC Ensembl
Innerchr1:21767367..21812579hg19UCSC Ensembl
Innerchr1:21639954..21685166hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg3845213
hg1945213
hg1845213
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945813
Supporting Variants
SamplesHGDP00456
Known GenesNBPF3
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)nssv1763436
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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