A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126990



Internal ID18915223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:36477945..36478005hg38UCSC Ensembl
Outerchr1:36943546..36943606hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985282
SamplesKWS1
Known GenesCSF3R
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126990
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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