A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976806



Internal ID18862786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:66358063..66358160hg38UCSC Ensembl
Outerchr12:66751843..66751940hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124752
Supporting Variants
SamplesKWS1
Known GenesGRIP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976806
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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