A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3962591



Internal ID19212730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:64203994..64204075hg38UCSC Ensembl
Outerchr12:64597774..64597855hg19UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3882
hg1982
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1129161
Supporting Variants
SamplesKWS1
Known GenesC12orf66
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3962591
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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