A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952212



Internal ID16954399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:154998225..155087624hg38UCSC Ensembl
Outerchr1:154970701..155060100hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3889400
hg1989400
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2997376
SamplesBILGI_BIOE
Known GenesADAM15, DCST1, DCST2, EFNA3, EFNA4, LOC100505666, ZBTB7B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952212
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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