A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074874



Internal ID19323042
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 StatusM
Merged Variants
Supporting Variantsnssv3769901
SamplesKWP1
Known GenesCXXC5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074874
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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