A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv956685



Internal ID16958872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:243262050..243262265hg38UCSC Ensembl
Outerchr1:243425352..243425567hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000512
SamplesBILGI_BIOE
Known GenesSDCCAG8
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv956685
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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