A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3762746



Internal ID18961605
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 StatusS
Merged Variantsnsv1076231
Supporting Variants
SamplesKWP1
Known GenesCACNA1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nssv3762746
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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