A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4000449



Internal ID18848262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10431980..10447370hg38UCSC Ensembl
Outerchr12:10584579..10599969hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3815391
hg1915391
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1148413
Supporting Variants
SamplesKWB1
Known GenesKLRC1, KLRC2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv4000449
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer