A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1765687



Internal ID17523006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25294559..25338846hg38UCSC Ensembl
Innerchr1:25621050..25665337hg19UCSC Ensembl
Innerchr1:25493637..25537924hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3844288
hg1944288
hg1844288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv945833
Supporting Variants
SamplesHGDP01284
Known GenesRHD, TMEM50A
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv1765687
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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