A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1077837



Internal ID19319939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21399787..21417988hg38UCSC Ensembl
chr17:21303099..21321300hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3818202
hg1918202
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762581
SamplesKWP1
Known GenesKCNJ12, KCNJ18
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1077837
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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