A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1074492



Internal ID18978453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:30134783..30135384hg38UCSC Ensembl
chr7:30174399..30175000hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38602
hg19602
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765384
SamplesKWP1
Known GenesMTURN
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1074492
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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