A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978837



Internal ID18899225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132239341..132239411hg38UCSC Ensembl
Outerchr12:132810192..132810262hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3871
hg1971
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140125
Supporting Variants
SamplesKWS2
Known GenesGALNT9
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978837
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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