A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127540



Internal ID18908122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18048828..18048895hg38UCSC Ensembl
Outerchr17:17952142..17952209hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3955274
SamplesKWS1
Known GenesGID4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127540
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