A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3976718



Internal ID19241636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120994497..120995697hg38UCSC Ensembl
Outerchr12:121432300..121433500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1124663
Supporting Variants
SamplesKWS2
Known GenesHNF1A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3976718
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