A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076231



Internal ID18973566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137878110..137882736hg38UCSC Ensembl
chr9:140772562..140777188hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg384627
hg194627
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762746
SamplesKWP1
Known GenesCACNA1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076231
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