A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv950383



Internal ID16952570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31407854..31411653hg38UCSC Ensembl
Outerchr1:31880701..31884500hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997117
SamplesBILGI_BIOE
Known GenesSERINC2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv950383
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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