A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3769843



Internal ID18963058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:56645026..56645527hg38UCSC Ensembl
chr1:57110699..57111200hg19UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg38502
hg19502
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1077860
Supporting Variants
SamplesKWP1
Known GenesPRKAA2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3769843
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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