A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1955703



Internal ID17747212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:25205451..25208955hg38UCSC Ensembl
Innerchr13:25779589..25783093hg19UCSC Ensembl
Innerchr13:24677589..24681093hg18UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg383505
hg193505
hg183505
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv983567
Supporting Variants
SamplesHGDP00521
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)nssv1955703
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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