A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2098049



Internal ID17514640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:41608774..41632235hg38UCSC Ensembl
Innerchr17:39765026..39788487hg19UCSC Ensembl
Innerchr17:37018552..37042013hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3823462
hg1923462
hg1823462
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv962326
Supporting Variants
SamplesHGDP01284
Known GenesKRT16, KRT17, KRT42P
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)nssv2098049
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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