A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984565



Internal ID18857724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122124053..122124553hg38UCSC Ensembl
Outerchr12:122608600..122609100hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126326
Supporting Variants
SamplesKWS1
Known GenesMLXIP
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984565
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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