A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128301



Internal ID18933374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:13918550..13918603hg38UCSC Ensembl
Outerchr7:13958175..13958228hg19UCSC Ensembl
Cytoband7p21.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958593
SamplesKWS1
Known GenesETV1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128301
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