A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139669



Internal ID19281281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:21419488..21450388hg38UCSC Ensembl
Outerchr17:21322800..21353700hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3830901
hg1930901
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1437n106
Supporting Variantsnssv3977255
SamplesKWS2
Known GenesKCNJ12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139669
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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