A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv956643



Internal ID16958830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:157576845..157577170hg38UCSC Ensembl
Outerchr2:158433357..158433682hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38326
hg19326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3003767
SamplesBILGI_BIOE
Known GenesACVR1C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv956643
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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