A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2390410



Internal ID17739243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:2332018..2344649hg38UCSC Ensembl
Innerchr6:2332252..2344883hg19UCSC Ensembl
Innerchr6:2277251..2289882hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg3812632
hg1912632
hg1812632
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv969344
Supporting Variants
SamplesHGDP00456
Known GenesGMDS-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)nssv2390410
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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