A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129212



Internal ID18935838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:224862064..224862153hg38UCSC Ensembl
Outerchr2:225726781..225726870hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962644
SamplesKWS1
Known GenesDOCK10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129212
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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