A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3995484



Internal ID18859779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56457227..56457290hg38UCSC Ensembl
Outerchr12:56851011..56851074hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144626
Supporting Variants
SamplesKWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3995484
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