A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3964989



Internal ID18872998
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1256410..1257203hg38UCSC Ensembl
Outerchr12:1365576..1366369hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38794
hg19794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129861
Supporting Variants
SamplesKWS1
Known GenesERC1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3964989
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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