A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3005116



Internal ID16951382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:180323874..180324169hg38UCSC Ensembl
Outerchr1:180293009..180293304hg19UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv957237
Supporting Variants
SamplesBILGI_BIOE
Known GenesACBD6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3005116
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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