A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2459693



Internal ID17495623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:66973159..66992589hg38UCSC Ensembl
Innerchr7:66438146..66457576hg19UCSC Ensembl
Innerchr7:66075581..66095011hg18UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg3819431
hg1919431
hg1819431
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv966836
Supporting Variants
SamplesHGDP00998
Known GenesSBDS
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)nssv2459693
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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