A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953452



Internal ID17302326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:7703941..7707440hg38UCSC Ensembl
Outerchr1:7764001..7767500hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg383500
hg193500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001723
SamplesBILGI_BIOE
Known GenesCAMTA1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953452
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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