A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1770860



Internal ID17523572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:68481480..68484229hg38UCSC Ensembl
Innerchr1:68947163..68949912hg19UCSC Ensembl
Innerchr1:68719751..68722500hg18UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg382750
hg192750
hg182750
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945991
Supporting Variants
SamplesHGDP01284
Known GenesDEPDC1
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)nssv1770860
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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