A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1068642



Internal ID18975698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244048297..244049698hg38UCSC Ensembl
chr1:244211599..244213000hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381402
hg191402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3770673
SamplesKWP1
Known GenesZBTB18
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1068642
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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