A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127273



Internal ID19275521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:48412361..48412551hg38UCSC Ensembl
Outerchr4:48414378..48414568hg19UCSC Ensembl
Cytoband4p11
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2789n106
Supporting Variantsnssv3985673
SamplesKWS1
Known GenesSLAIN2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127273
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