A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3769901



Internal ID19315044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:139647914..139651715hg38UCSC Ensembl
chr5:139027499..139031300hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg383802
hg193802
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1074874
Supporting Variants
SamplesKWP1
Known GenesCXXC5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3769901
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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