A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3004068



Internal ID16950334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122525810..122526129hg38UCSC Ensembl
Outerchr12:123010357..123010676hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38320
hg19320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv958634
Supporting Variants
SamplesBILGI_BIOE
Known GenesRSRC2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3004068
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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