A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4435197



Internal ID21397199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:158146309..158152308hg38UCSC Ensembl
chr7:157939001..157945000hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv789n172
Supporting Variantsnssv15752983, nssv15753514, nssv15745844, nssv15748667, nssv15746291, nssv15752039
SamplesNB12, SMI034, NB08, NB10, NB07, NB09
Known GenesPTPRN2
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4435197
Frequency
Sample Size15
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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