A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv953840



Internal ID17302714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18420487..18564086hg38UCSC Ensembl
Outerchr17:18323801..18467400hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38143600
hg19143600
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3000258
SamplesBILGI_BIOE
Known GenesCCDC144B, FAM106A, KRT16P1, LGALS9C, LOC339240, USP32P2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv953840
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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