A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977255



Internal ID19247609
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 StatusS
Merged Variantsnsv1139669
Supporting Variants
SamplesKWS2
Known GenesKCNJ12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977255
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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