A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3765237



Internal ID19305012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230425953..230426554hg38UCSC Ensembl
chr1:230561699..230562300hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1068953
Supporting Variants
SamplesKWP1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3765237
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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