A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953146



Internal ID17302020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70958971..70963670hg38UCSC Ensembl
Outerchr2:71186101..71190800hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3001751
SamplesBILGI_BIOE
Known GenesATP6V1B1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953146
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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