A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129301



Internal ID18937966
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:17344587..17344673hg38UCSC Ensembl
Outerchr9:17344585..17344671hg19UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962734
SamplesKWS1
Known GenesCNTLN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129301
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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