A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953948



Internal ID16956135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3171703..3700002hg38UCSC Ensembl
Outerchr19:3171701..3700000hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38528300
hg19528300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998927
SamplesBILGI_BIOE
Known GenesC19orf71, C19orf77, CACTIN, CACTIN-AS1, CELF5, DOHH, FZR1, GIPC3, HMG20B, MFSD12, NCLN, NFIC, PIP5K1C, S1PR4, TBXA2R
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953948
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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