A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126155



Internal ID19265723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:74052101..74054919hg38UCSC Ensembl
Outerchr7:73466431..73469249hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg382819
hg192819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3984379
SamplesKWS1
Known GenesELN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126155
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