A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3986785



Internal ID18873940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137878278..137882748hg38UCSC Ensembl
Outerchr9:140772730..140777200hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg384471
hg194471
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1132106
Supporting Variants
SamplesKWS1
Known GenesCACNA1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3986785
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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