A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2085915



Internal ID17802041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:21402159..21448999hg38UCSC Ensembl
Innerchr17:21305471..21352311hg19UCSC Ensembl
Innerchr17:21246064..21292904hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3846841
hg1946841
hg1846841
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv960444
Supporting Variants
SamplesHGDP00778
Known GenesKCNJ12, KCNJ18
MethodSequencing
Analysislineage specific fixed duplications
PlatformNot reported
Commentslineage specific duplication - fixed_Ggod-Ggog-Gbeg-Ptrs-Ptrt-Ptre-Ptrv-Ppa-Hsa-Hde
ReferenceSudmant_et_al_2013
Pubmed ID23825009
Accession Number(s)nssv2085915
Frequency
Sample Size10
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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