A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1119139



Internal ID19258920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:138980854..138981854hg38UCSC Ensembl
Outerchr7:138665600..138666600hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981945
SamplesKWS1
Known GenesKIAA1549
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1119139
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