A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3980916



Internal ID19204994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:105330422..105331122hg38UCSC Ensembl
Outerchr12:105724200..105724900hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118245
Supporting Variants
SamplesKWS1
Known GenesC12orf75
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3980916
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