A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3768970



Internal ID18965931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172368483..172368702hg38UCSC Ensembl
chr5:171795487..171795706hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg38220
hg19220
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1073934
Supporting Variants
SamplesKWP1
Known GenesSH3PXD2B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3768970
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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