A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3971765



Internal ID19229666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132748548..132748633hg38UCSC Ensembl
Outerchr12:133325134..133325219hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134281
Supporting Variants
SamplesKWS2
Known GenesANKLE2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3971765
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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