A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1078265



Internal ID18979852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157992809..157994610hg38UCSC Ensembl
chr1:157962599..157964400hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg381802
hg191802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3772562
SamplesKWP1
Known GenesKIRREL
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1078265
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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