A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129939



Internal ID18909984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99400169..99408992hg38UCSC Ensembl
Outerchr12:99793947..99802770hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg388824
hg198824
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv861n106
Supporting Variantsnssv3965077
SamplesKWS1
Known GenesANKS1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129939
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