A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1767174



Internal ID17869852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:51157653..51158246hg38UCSC Ensembl
Innerchr1:51623325..51623918hg19UCSC Ensembl
Innerchr1:51395913..51396506hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38594
hg19594
hg18594
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv945939
Supporting Variants
SamplesHGDP01284
Known Genes
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)nssv1767174
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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