A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1071383



Internal ID18972981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41422594..41439068hg38UCSC Ensembl
chr17:39578846..39595320hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3816475
hg1916475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3767185
SamplesKWP1
Known GenesKRT37, KRT38
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1071383
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer