A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2097298



Internal ID17848202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42549814..42556265hg38UCSC Ensembl
Innerchr17:40701832..40708283hg19UCSC Ensembl
Innerchr17:37955358..37961809hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386452
hg196452
hg186452
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv960106
Supporting Variants
SamplesHGDP01029
Known GenesHSD17B1
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)nssv2097298
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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