A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762680



Internal ID19306427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32560381..32562582hg38UCSC Ensembl
chr17:30887399..30889600hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg382202
hg192202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1072729
Supporting Variants
SamplesKWP1
Known GenesMYO1D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762680
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