A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952422



Internal ID16954609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:18606691..18807891hg38UCSC Ensembl
Outerchr19:18717501..18918700hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38201201
hg19201200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2998972
SamplesBILGI_BIOE
Known GenesCOMP, CRLF1, CRTC1, KLHL26, TMEM59L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952422
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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