A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2095694



Internal ID17864830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41523481..41525381hg38UCSC Ensembl
Innerchr17:39679733..39681633hg19UCSC Ensembl
Innerchr17:36933259..36935159hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg381901
hg191901
hg181901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv978425
Supporting Variants
SamplesHGDP01284
Known GenesKRT19
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)nssv2095694
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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