A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1772000



Internal ID17465798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:71051428..71054541hg38UCSC Ensembl
Innerchr1:71517111..71520224hg19UCSC Ensembl
Innerchr1:71289699..71292812hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383114
hg193114
hg183114
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945995
Supporting Variants
SamplesHGDP00927
Known GenesZRANB2-AS1
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)nssv1772000
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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