A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2423198



Internal ID17424570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:132814697..132815325hg38UCSC Ensembl
Innerchr6:133135836..133136464hg19UCSC Ensembl
Innerchr6:133177529..133178157hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38629
hg19629
hg18629
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv970166
Supporting Variants
SamplesHGDP00542
Known GenesRPS12, SNORD101
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)nssv2423198
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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