A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992809



Internal ID18886805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21397788..21418688hg38UCSC Ensembl
Outerchr17:21301100..21322000hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3820901
hg1920901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1141304
Supporting Variants
SamplesKWS2
Known GenesKCNJ12, KCNJ18
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992809
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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