A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4003472



Internal ID18846595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122525807..122526121hg38UCSC Ensembl
Outerchr12:123010354..123010668hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38315
hg19315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1150175
Supporting Variants
SamplesKWB1
Known GenesRSRC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4003472
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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