A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4432484



Internal ID21394486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:21289689..21450688hg38UCSC Ensembl
chr17:21193001..21354000hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38161000
hg19161000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv310n172
Supporting Variantsnssv15751149, nssv15746273, nssv15753176, nssv15751906, nssv15754252, nssv15749585
SamplesNB12, SMI034, MDQ045, NB07, MDQ025, NB09
Known GenesKCNJ12, KCNJ18, MAP2K3
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4432484
Frequency
Sample Size15
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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