A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124049



Internal ID18913881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:49377264..49379693hg38UCSC Ensembl
Outerchr13:49951400..49953829hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382430
hg192430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv969n106
Supporting Variantsnssv3974228
SamplesKWS1
Known GenesCAB39L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124049
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