A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1150175



Internal ID18851138
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 StatusM
Merged Variants
Supporting Variantsnssv4003472
SamplesKWB1
Known GenesRSRC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1150175
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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